ChromosOmics - Database




                                                  - CHROMOSOME  13 -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet and this page (variable clinical features)

 - DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly, holoprosencephaly
- DYS = dysmorphic facial features
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), micrognathia, congenital heart defects, cerebral malformations, finger and tow malformations, heart defects

Pätau syndrome possible in combination with RC-13

Retinoblastoma possible in case of loss of r(13) and mutation in RB1 in 13q14.2 on normal chromosome 13

Cases without or very mild clinical findings (O)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype test
methods
 		clinical symptoms
 		Reference
RC/O-
13-
p1?3q3?4/
1-1a and 1-1b
 		female/
adult
 		PBL ?dn
 		46,XX,r(13)(p1?3q3?4)
dynamic mosaicism:
46,XX,r(13)[10]/46,XX[90] 		GTG

normal;

Son with same r(13) in 80% of the cells, affected 		{1281, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p1?3q3?4/
2-1
 		n.a./
adult
 		PBL ?dn
 		46,XX,der(6)t(6;13)(p?);?),r(13)(?6;13)(?;p1?3q3?4)
 		GTG
FISH

normal; event of unbalanced pregnancy

 {1552 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p1?3q3?4/
3-1
 		female/
7y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4) GTG
 		obesity; psychomotor developm. normal with learning difficulties {1593 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p13q34/
1-1a and 1-1b
 		female/
4.5y
 		PBL maternal
 		46,XX,r(13)(p13q34)
 		GTG
FISH
 		Mild ID; all others features only mild: DD, microcephaly, growth retardation
 {341; 1515 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p13q34/
1-2
 		female/
~20y
 		PBL dn
 		46,XX,r(13)(p13q34)
dynamic mosaicism: 46,XX,r(13)(p13q34)[84]/45,XX,-13[9]/ 46,XX,r(13;13)[5]
acc. to aCGH no loss or gain in 13q 		GTG
aCGH
 		normal
studied due to premature ovaraian failure
 {358, 1568; 1569 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p13q34/
1-3
 		male/
35y
 		PBL ?dn
 		46,XY,r(13)(p13q34)
dynamic mosaicism: 46,XY,r(13)[75]/45,XY,-13[14]/46,XY,dic (13;13)[8]/47,XY,r(13),+r(13)[2]/
46,XY,tetrac r(13;13;13;13)[1]
Subtelomer 13qter absent
acc. to aCGH 1.5Mb loss at 13qter 		GTG
FISH
aCGH
 		mild ID and infertile
 {367}
RC/O-
13-
p13q34/
1-4
 		female/
32y
 		PBL ?dn
 		46,XX,r(13)(p13q34)
dynamic mosaicism:
45,XX,-13[7]/46,XX,r(13)(p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dicr(13;13)[1]/46,XX [3]
acc. to aCGH 3.3Mb loss at 13qter 		GTG
aCGH
 		nomal and infertile
 {551}
RC/O-
13-
p13q34/
1-5
 		female/
child
 		PBL ?dn
 		46,XX,r(13)(p13q34) GTG
 		normal
with slight DYS
 {1483 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p13q34/
1-6a and 1-6b
 		female/
adult
 		PBL ?dn
 		46,XX,r(13)(p13q34)
dynamic mosaicism:
46,XX,r(13)[81]/45,XX,-13[12]/46,XX[7] 		GTG
 		normal; affected male child with RC13 syndrome signs
 {1601 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p12q34/
1-1a and 1-1b
 		female/
29y
 		PBL ?dn
 		46,XX,r(13)(p12q34)
dynamic mosaicism:
46,XX,r(13)[95]/45,XX,-13[5] 		GTG
 		normal
with slight DYS, and alopecia; daughter with more or less same features
 {1488  - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p11.2q34/
1-1
 		male/
31y
 		PBL ?dn
 		46,XY,r(13)(p11.2q34)
dynamic mosaicism: 46,XY,r(13)[24]/45,XY -13[4]/46,XY,dicr (13;13)[2] 		GTG
 		normal, azoospermia {368}
RC/O-
13-
p11q34/
1-1
 		male/
  18y
 		PBL dn
 		46,XY,r(13)(p11q34)
 		GTG
 		DD, microcephaly, growth retardation, DYS, can live a normal life
 {305}
RC/O-
13-
p11q34/
1-2
 		female/
8y
 		PBL ?dn
 		46,XY,r(13)(p11q34)
Subtelomer 13qter absent

 		GTG
FISH
 		goes to normal school; All features only mild: DD, microcephaly, growth retardation, DYS {333}
RC/O-
13-
p11q34/
1-3
 		female/
33y
 		PBL ?dn
 		46,XX,r(13)(p11q34)
acc. to aCGH ~2Mb loss at 13qter 		GTG
aCGH
 		  growth retardation, DYS; finished normal school, works and lives independently {1554, case 2  - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p11.2q34/
1-1a to 1-1c
 		female/
adult
 		PBL ?dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism:
46,XX,r(13)[41]/45,XX,-13[6]/46,XX[dr(13)[2] 		GTG
 		normal, but one child with RC(13) and DD and one fetus with RC(13)  {1606 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
13-
p11.1q31.1/
1-1
 		female/
23y
 		PBL ?dn
 		46,XX,r(13)(p11.1q31.1),der(21)t(13;21)(q31.1;p12)
acc. to aCGH 32.3Mb loss at 13qter 		GTG
aCGH in POC
 		retinoblastoma - otherwise normal; child abnormal in sonography
 {1609 - provided by Dr. I. Lurie, Maryland, USA}

Cases with clinical findings (W)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype
 		test
methods
 		general clinical symptoms
 		Reference
RC/W-
13-
p1?1q3?1/
1-1
 		female/
newborn 		PBL ?dn
 		46,XX,r(13)(p1?1q3?1) GTG
 		  DYS {625, case 13-3}
RC/W-
13-
p1?1q3?2/
1-1
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?2)
 		GTG
 		DD, microcephaly, growth retardation, DYS {304, case 2}
 literature not accessible
RC/W-
13-
p1?1q3?2/
1-2
 		female/
newborn
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?2)
dynamic mosaicism: 12% 		GTG
 		DD, microcephaly, growth retardation, DYS {309, case 1}
RC/W-
13-
p1?1q3?2/
1-3
 		female/
newborn 		PBL ?dn
 		46,XX,r(13)(p1?1q3?2)
dynamic mosaicism: 12% 		GTG
 		DD, microcephaly, growth retardation, DYS {309, case 2}
RC/W-
13-
p1?1q3?4/
1-1
 		female/
~1y
 		PBL
dn
 		46,XX,r(13)(p1?1q3?4)
dynamic mosaicism present but not specified
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{266}
RC/W-
13-
p1?1q3?4/
1-2
 		male/
~1y
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{267; 268}
RC/W-
13-
p1?1q3?4/
1-3
 		female/
3y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{269}
RC/W-
13-
p1?1q3?4/
1-4
 		female/
10y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{270}
RC/W-
13-
p1?1q3?4/
1-5
 		male/
newborn
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{271, case 1}
RC/W-
13-
p1?1q3?4/
1-6
 		female/
1y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{271, case 2}
RC/W-
13-
p1?1q3?4/
1-7
 		male/
~1y
 		PBL, fibros ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: 15%
46,XY,r(13)/45,XY-13/46,XY,dr(13)/46,XY,var(13)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{272}
RC/W-
13-
p1?1q3?4/
1-8
 		male/
9y
 		?PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{273; 288}
RC/W-
13-
p1?1q3?4/
1-9
 		n.a./
n.a.
 		?PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{274}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-10
 		male/
~2y
 		?PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{275, case 1}
RC/W-
13-
p1?1q3?4/
1-11
 		female/
0.5y 		?PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{275, case 2}
RC/W-
13-
p1?1q3?4/
1-12
 		male/
9y
 		PBL, fibros dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: ~5%
46,XY,r(13)/45,XY-13
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{276}
RC/W-
13-
p1?1q3?4/
1-13
 		n.a./
n.a.
 		?PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{277}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-14
 		n.a./
prenatal
 		AF ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS; TOP
 		{278}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-15
 		female/
1.5y
 		PBL, fibros ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: 8%
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{279}
RC/W-
13-
p1?1q3?4/
1-16
 		female/
~1y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{280; 285; 576, case AH}
RC/W-
13-
p1?1q3?4/
1-17
 		female/
newborn
 		PBL dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{281}
RC/W-
13-
p1?1q3?4/
1-18
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{196}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-19
 		male/
newborn
 		PBL dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: ~2%
46,XY,r(13)/45,XY,-13
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{283}
RC/W-
13-
p1?1q3?4/
1-20
 		female/
~0.5y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{284}
RC/W-
13-
p1?1q3?4/
1-21
 		male/
~2y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{286, case 2}
RC/W-
13-
p1?1q3?4/
1-22
 		female/
20y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{287}
RC/W-
13-
p1?1q3?4/
1-23
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{188}
RC/W-
13-
p1?1q3?4/
1-24
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4) solid staining
 		DD, microcephaly, growth retardation, DYS
 		{290}
RC/W-
13-
p1?1q3?4/
1-25
 		male/
25y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{282}
RC/W-
13-
p1?1q3?4/
1-26
 		male/
0.5y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{291, case 1}
RC/W-
13-
p1?1q3?4/
1-27
 		female/
0.5y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
dynamic mosaicism 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{291, case 2}
RC/W-
13-
p1?1q3?4/
1-28
 		male/
5y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		solid staining
 		DD, microcephaly, growth retardation, DYS
 		{292}
RC/W-
13-
p1?1q3?4/
1-29
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS; dispigmentation  {293}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-30
 		male/
prenatal
 		fibros ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		product of conception/ abortion {294; 1430 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-31
 		male/
prenatal
 		fibros ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		product of conception/ abortion {297, 1 case}
RC/W-
13-
p1?1q3?4/
1-32
 		male/
20y
 		fibros ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {300}
RC/W-
13-
p1?1q3?4/
1-33
 		male/
~0.5y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {301}
RC/W-
13-
p1?1q3?4/
1-33 to 1-34
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {302}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-35
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {303}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-36
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {304, case 1}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-37
 		female/
3.5y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
dynamic mosaicism: 11% 		GTG
 		DD, microcephaly, growth retardation, DYS {309, case 3}
RC/W-
13-
p1?1q3?4/
1-38
 		female/
postnatal
 		PBL ?dn
 		46,XX,t(2;6)(q24;p22), r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {313}
RC/W-
13-
p1?1q3?4/
1-39
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS; dispigmentation  {317}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-40
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {318}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-41
 		male/
n.a.
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {319}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-42
 		male/
5y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicis: 46,XY[35]/46,XY,r(13)[61]/46,XY,dic r(13)[4] 		GTG
 		DD, microcephaly, growth retardation, DYS {322; 582}
RC/W-
13-
p1?1q3?4/
1-43
 		male/
stillborn
 		PBL dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicis: 46,XY,r(13)[5]/45,XY,-13[15] 		GTG
 		DD, microcephaly, growth retardation, DYS {323}
RC/W-
13-
p1?1q3?4/
1-44
 		male/
stillborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicis: 45,XY,-13[4]/46,XY,-13,+r(13)[8] 		GTG
 		DD, microcephaly, growth retardation, DYS {324}
RC/W-
13-
p1?1q3?4/
1-45
 		female/
child
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicis: 47,XX,r(13),+dic(13)/46,XX,r(13)/45,XX,-13/48,XX,+r(13),+dic(13)/47,XX,r(13),+r(13) 		GTG, FISH
 		DD, microcephaly, growth retardation, DYS {325}
RC/W-
13-
p1?1q3?4/
1-46
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {329}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-47
 		female/
newborn
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4) GTG
 		DD, microcephaly, growth retardation, DYS {330}
RC/W-
13-
p1?1q3?4/
1-48
 		n.a./
n.a.
 		?PBL
?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		anencephaly
 {1588, case 3 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-49
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {338}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-50
 		female/
1y
 		PBL dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicis: 46,XX,r(13)[80]/45,XX,-13[15]/46,XX,r-var[5] 		GTG, FISH
 		DD, microcephaly, growth retardation, DYS {340}
RC/W-
13-
p1?1q3?4/
1-51
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
dynamic mosaicis: 46,XX,r(13)[80]/45,XX,-13[15]/46,XX,r-var[5] 		GTG
 		DD, microcephaly, growth retardation, DYS {345}
 literature not accessible
RC/W-
13-
p1?1q3?4/
1-53
 		male/
n.a.
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
FISH
 		DD, growth retardation, DYS {542, case 7}
RC/W-
13-
p1?1q3?4/
1-54
 		n.a./
prenatal
 		AF
 ?dn
 		46,XN,r(13)(p1?1q3?4)
dynamic mosaicism 		GTG
 		DD, growth retardation, DYS, TOP {554}
RC/W-
13-
p1?1q3?4/
1-55
 		female/
prenatal
 		AF
 ?dn
 		46,XX,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS, TOP {563}
RC/W-
13-
p1?1q3?4/
1-56
 		male/
0.3y
 		PBL
 ?dn
 		46,XY,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS {567; 1594 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-57
 		male/
newborn
 		PBL
 ?dn
 		46,XY,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS {568}
RC/W-
13-
p1?1q3?4/
1-58
 		n.a./
newborn
 		PBL
 ?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS {569}
RC/W-
13-
p1?1q3?4/
1-59
 		n.a./
n.a.
 		PBL
 ?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS {572}
literature not accessible
RC/W-
13-
p1?1q3?4/
1-60 to 1-62
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS {578}
 no details provided in paper
RC/W-
13-
p1?1v/
1-63
 		n.a./
n.a.
 		PBL
 ?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS {584}
literature not accessible
RC/W-
13-
p1?1q3?4/
1-64
 		male/
newborn
 		PBL
 ?dn
 		46,XY,r(13)(p1?1q3?4) GTG
 		DD, microcephaly, growth retardation, DYS {586, 1 case}
RC/W-
13-
p1?1q3?4/
1-65
 		male/
~1y
 		PBL
 ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: 46,XY,r(13)[20]/46,XY[3] 		GTG
 		n.a.
 {625, case 13-2}
RC/W-
13-
p1?1q3?4/
1-66

male/
child

PBL

?dn

 46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, DYS {1192, case 2; 1572, case 2}
RC/W-
13-
p1?1q3?4/
1-67

female/
~1y

PBL

dn

 46,XX,r(13)(p1?1q3?4)
 		GTG

DD, DYS, microcephaly, growth retardation

 {1204}
RC/W-
13-
p1?1q3?4/
1-68

n.a./
prenatal - newborn

PBL

?dn

 46,XN,r(13)(p1?1q3?4)
dynamic mosaicism 		GTG

DYS, microcephaly, growth retardation

 {1276; 1541 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-69

female/
prenatal - newborn

PBL

dn

 46,XX,r(13)(p1?1q3?4)
dynamic mosaicism: 46,XX,r(13)[26]/45,XX,-13[4] 		GTG

cystic hygroma, DYS

 {1298} case RC13-4
RC/W-
13-
p1?1q3?4/
1-70
 		n.a./
postnatal
 		PBL
?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		?DD,  DYS
 		{1314, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-71
 		n.a./
abortion
 		thymus cells
 		?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		  DYS; del(13q) signs and symptoms
 		{1426 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-72
 		female/
postnatal
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		  microcephaly, micrognathia, DYS; del(13q) signs and symptoms
 		{1427; 2428 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-73
 		female/
newborn
 		PBL dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, micrognathia, DYS; del(13q) signs and symptoms
 		{1429, case 2; 1430 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-74
 		female/
newborn
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, micrognathia, DYS; r(13) signs and symptoms
 		{1480 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-75
 		male/
~2y
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DYS
 		{1481, case 3; 1482, case 190 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-76
 		female/
~18y
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, growth retardation, DYS, hypotonia
 		{1489, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-77
 		female/
newborn
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, imperf. anus
 		{1492 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-78
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, DYS; heart defect, imperf. anus
 		{1493 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-79
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
FISH
 n.a.
 		{1494 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-80
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, DYS, heart defect
 		{1495 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-81
 		male/
newborn
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 GTG
 		DD, growth retardation, microcephaly, DYS {1553 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-82
 		female/
postnatal
 		PBL ?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		Dandy Walker variant
 		{1498 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-83
 		n.a./
prenatal
 		AF
?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		DYS
 		{1500 - provided by Dr. I. Lurie, Maryland, USA}
literature not accessible
RC/W-
13-
p1?1q3?4/
1-84
 		female/
~0.1y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, microcephaly, DYS
 		{1502 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-85 to 1-87
 		n.a./
postnatal
 		PBL
?dn
 		46,XN,r(13)(p1?1q3?4)
breakpoint in q sugested in 13q32 in 2 cases and 13q34 in 1 case
 		GTG
 		DD, microcephaly, DYS, heart defect (not all symptoms present in all patients {1503, 3 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-88
 		male/
postnatal
 		PBL ?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism:
46,XY,r(13)/46,XY 		GTG
 		growth retardation, DYS {1504 - provided by Dr. I. Lurie, Maryland, USA}
literature not completely accessible
RC/W-
13-
p1?1q3?4/
1-89
 		female/
newborn
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, growth retardation, microcephaly, DYS, hypotonia
 		{1507 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-90
 		female/
10.5y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, growth retardation, microcephaly, DYS, hypotonia; developmental regression
 		{1512 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-91
 		n.a./
prenatal
 		AF
 ?dn
 		46,XN,r(13)(p1?1q3?4) GTG
FISH
 		DD, growth retardation, DYS, holoprosencephaly, TOP {1516 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-92 to 94
 		males/
prenatal
 		AF
 ?dn
 		46,XY,r(13)(p1?1q3?4) GTG
 		DD, growth retardation, DYS, holoprosencephaly, TOP {1517, cases 1, 2, 5 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-95
 		male/
~1.3y
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 		GTG
 		DD, growth retardation, microcephaly, DYS, hypotonia
 		{1522 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-96
 		female/
prenatal
 		AF
?dn
 		46,XN,r(13)(p1?1q3?4)
 		GTG
 		anencephaly
 		{1527, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-97
 		female/
newborn
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 		GTG
 		DD, growth retardation, , DYS, heart defect
 		{1534 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-98
 		female/
stillborn
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
dynamic mosaicism:
46,XX,r(13)[3]/45,XX,-13[12] 		GTG
 		growth retardation, DYS; other twin normal {1535 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-99
 		male/
newborn
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 GTG
 		growth retardation, DYS; Pätau-syndrome like
 {1540 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-100
 		n.a./
prenatal
 		AF
?dn
 		46,XN,r(13)(p1?1q3?4)
 GTG
 		holoprosencephaly {1543, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-101
 		n.a./
prenatal
 		AF
?dn
 		46,XN,r(13)(p1?1q3?4)
 GTG
 		n.a.
 {1544, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-102
 		female/
postatal
 		PBL
dn
 		46,XX,r(13)(p1?1q3?4)
possibly a duplication of 13q21.2 to 13q32
dynamic mosaicism:
46,XX,r(13)/45,XX,-13 		GTG
 		DD, growth retardation
 {1551 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-103 to 1-105
 		male/
postnatal
 		PBL
dn
 		46,XY,r(13)(p1?1q3?4)
 GTG
 		DD, growth retardation, microcephaly, DYS {1555, cases 3-5 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-106
 		male/
postnatal
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
dynamic mosaicism: 46,XY,r(13)/45,XY,-13 		GTG
 		DD, growth retardation, DYS, skoliosis
 {1562, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-107
 		n.a./
prenatal
 		AF
?dn
 		46,XX,r(13)(p1?1q3?4)
no aCGH data available 		GTG
aCGH
 		DYS
 {1566, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-108
 		female/
newborn
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4)
 GTG
 		DD, growth retardation, microcephaly, DYS {1575 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-109
 		male/
newborn
 		PBL
?dn
 		46,XY,r(13)(p1?1q3?4)
 GTG
 		DD, growth retardation, microcephaly, DYS {1583 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-110
 		n.a./
n.a.
 		?PBL
?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		n.a.
 {1585, 1 case ment. in Fig 6 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-111
 		n.a./
n.a.
 		?PBL
?dn
 		46,XN,r(13)(p1?1q3?4) GTG
 		neural tube defect, microcephaly, DYS {1586, case MET 8 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
1-112
 		female/
23y
 		PBL
?dn
 		46,XX,r(13)(p1?1q3?4) GTG
 		DD, seizures, scoliosis, DYS {1604 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p1?1q3?4/
2-1
 		female/
n.a.
 		PBL ?dn
 		  46,XX,rob(13q13q)[75]/
46,XX,r(13)(p1?1q3?4)[25]
 		GTG
 		Pätau-syndrome and DD, microcephaly, growth retardation, DYS {371}
literature not accessible
RC/W-
13-
p1?1q3?4/
2-2
 		female/
n.a.
 		PBL ?dn
 46,XX,rob(13q13q)[74]/
46,XX,r(13)(p1?1q3?4)[26]

GTG
 		Pätau-syndrome and DD, microcephaly, growth retardation, DYS {372}
 literature not accessible
RC/W-
13-
p1?1q3?4/
2-3
 		n.a./
n.a.
 		PBL ?dn
 		  46,XN,rob(13q13q)[34]/
46,XN,r(13)(p1?1q3?4)[66]  		GTG
 		Pätau-syndrome and DD, microcephaly, growth retardation, DYS {373}
literature not accessible
RC/W-
13-
p1?1q3?4/
2-4
 		n.a./
n.a.
 		PBL ?dn
 		  46,XN,rob(13q13q)[53]/
46,XN,r(13)(p1?1q3?4)[47] 		GTG
 		Pätau-syndrome and DD, microcephaly, growth retardation, DYS {374}
 literature not accessible
RC/W-
13-
p1?1q3?4/
3-1
 		male/
~0.1y
 		PBL
fibros
 		?dn
 		  47~48,XY,t(13;13)(p11;q14),+marx1~2/
47~48,XY,r(13)(p1?1q3?4)+marx1~2 		GTG
 		  DYS, dispigmentation {1497 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q14/
1-1
 		male/
  prenatal
 		AF ?dn
 		47,XY,r(13)(p13q14),+der(13)(qter->q14:q14->qter)
 GTG
FISH
 DD, microcephaly, growth retardation, DYS; TOP {335}
RC/W-
13-
p13q22/
1-1
 		female/
  ~0.1y
 		PBL dn
 		46,XX,r(13)(p13q22)
dynamic mosaicism:
46,XX,r(13)[52]/46,XX,del(13)(q22)[231] 		GTG
 DD, microcephaly, micrognathia, growth retardation, DYS {1484; 1485 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q22/
2-1 		female/
~2.3y
 		PBL dn
 		46,XX,r(13)(p13q22)
 GTG
 DD, microcephaly, growth retardation, DYS; ret. coloboma; hydrocephalus {1490; 1491, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q31~32/
1-1 		male/
~0.3y
 		PBL ?dn
 		46,XY,r(13)(p13q31~32)
 GTG
 DD, microcephaly, growth retardation, DYS {1571 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q31.1/
1-1
 		male/
n.a.
 		PBL dn
 		46,XY,r(13)(p13q31.1)
acc. to aCGH 27Mb loss at 13qter 		GTG
aCGH
OGM
 microcephaly, DYS {626, case NA03321; 627}
RC/W-
13-
p13q31.1/
2-1
 		male/
prenatal
 		AF ?dn
 		46,XY,r(13)(p13->q31.1::q12.11->q31.1)
acc. to aCGH 23.5Mb loss at 13qter and gain of 72.1Mb 		GTG
aCGH
 DYS, TOP {1596, case 15X0043 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q31.2/
1-1
 		female/
postnatal
 		PBL ?dn
 		46,XX,r(13)(p13q31.2)
acc. to aCGH 25.8Mb loss at 13qter 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {1573, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q32/
1-1
 		female/
prenatal
 		PBL ?dn
 		46,XX,r(13)(p13q32)
 GTG
 baby born, DD, microcephaly, micrognathia, holoprosencephaly, heart defect, DYS {1574 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q32/
1-2
 		n.a./
postnatal
 		PBL ?dn
 		46,XN,r(13)(p13q32)
dynamic mosaicism
for aCGH no details provided		 GTG
aCGH
 n.a. {1595, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q32/
1-3
 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p13q32)
 		GTG
 DD, microcephaly, growth retardation,   heart defect, DYS {1607 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q32.3/
1-1
 		female/
~1.8y
 		PBL ?dn
 		46,XX,r(13)(p13q32.3)
dynamic mosaicism: 46,XX,r(13)[46]/45,XX,-13[4]
acc. to aCGH 16.4Mb loss at 13qter 		GTG
aCGH 		DD, microcephaly, growth retardation,   heart defect, DYS {1584, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q33.1/
1-1
 		male/
3y
 		PBL dn
 		46,XY,r(13)(p13->q33.1::q33.1->q33.1)
dynamic mosaicism: ~10%
 acc. to aCGH 41.5MB dup q13.33-q34 and 11.1Mb loss at 13qter 		GTG
FISH
aCGH
 DD, microcephaly, growth retardation, DYS {78, case 5; 1592 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-1
 		n.a./
n.a.
 		?PBL ?dn
 		46,XN,r(13)(p13q34) GTG
 		DD, microcephaly, growth retardation, DYS {296} literature not accessible
RC/W-
13-
p13q34/
1-2
 		female/
  ~5y
 		PBL ?dn
 		46,XX,r(13)(p13q34)
dynamic mosaicism
 GTG
 		DD, microcephaly, growth retardation, DYS {307, case 2}
RC/W-
13-
p13q34/
1-3
 		female/
  ~0.5y
 		PBL, fibros ?dn
 		46,XX,r(13)(p13q34)
dynamic mosaicism
 GTG
 		DD, microcephaly, growth retardation, DYS {316}
RC/W-
13-
p13q34/
1-4
 		male/
  prenatal
 		AF ?dn
 		46,XY,r(13)(p13q34)
dynamic mosaicism: 46,XY,r(13)[33]/45,XY,-13[19]
acc. to aCGH 4.22Mb loss at 13qter
GTG
aCGH
 		DD, microcephaly, growth retardation, DYS; TOP {348}
RC/W-
13-
p13q34/
1-5
 		male/
  newborn
 		PBL, fibros dn
 		46,XY,r(13)(p13q34)
dynamic mosaicism: 46,XY,r(13)[89]/45,XY,-13[5]/46,XY,r(13;13)[7]
acc. to aCGH 8.14Mb loss at 13qter (plus most likely false postivie gain of 13q33.2-q34)
 GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {352}
RC/W-
13-
p13q34/
1-7
 		male/
  n.a.
 		PBL ?dn
 		46,XY,r(13)(p13q34)
dynamic mosaicism: 46,XY,r(13)[100]/46,XY,r(13)(p13q13)[21]/45,XY,-13[8]/46,XY,dr(13)[3]
 GTG
FISH
 		DD, microcephaly, growth retardation, DYS {595, case 37}
RC/W-
13-
p13q34/
1-8

female/
newborn

PBL

?dn

 46,XX,r(13)(p13q34)
 GTG
 		DD, microcephaly, growth retardation, DYS {1191}
RC/W-
13-
p13q34/
1-9

female/
~5.5y

PBL

?dn

 46,XX,r(13)(p13q34)
dynamic mosaicism: 46,XX,r(13)[97]/46,XX,dr(13)[3] 		GTG
 		DD, growth retardation, DYS {1529 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-10

male/
newborn

PBL

?dn

 46,XY,r(13)(p13q34)
dynamic mosaicism:
46,XY,r(13)/46,XXYdr(13)/45,XY,-13 		GTG
 		DD, microcephaly, growth retardation, DYS, hypotonia {1550 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-11 		male/
postnatal
 		PBL
 ?dn
46,XY,r(13)(p11q34)
dynamic mosaicism: 46,XY,r(13)[98]/46,XY,dr(13)[1]
acc. to aCGH 3.82Mb loss at 13qter
 		GTG
aCGH
 		microcephaly, DYS, heart defect {369, 1 case; 1565, case 15}
RC/W-
13-
p13q34/
1-12 		female/
10y
 		PBL
 dn
46,XY,r(13)(p11q34)
 		GTG
 		DD, microcephaly, growth retardation, DYS, seizures {1576, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-13

female/
~1.25y

PBL

?dn

 46,XX,r(13)(p13q34)
 GTG
 		DD, microcephaly, growth retardation, DYS {1578 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-14

male/
4y

PBL

?dn

 46,XY,r(13)(p13q34)
 GTG
 		DD, microcephaly, growth retardation, DYS, dispigmentation
 {1591, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-15

female/
prenatal

AF
PBL

?dn

 46,XX,r(13)(p13q34)
dynamic mosaicism:
46,XY,r(13)[17/26]/45,XX,-13[13/4] 		GTG
 		DD, growth retardation, DYS
 {1603 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
1-16

male/
1y

PBL

dn

 46,XY,r(13)(p13q34)
dynamic mosaicism:
46,XY,r(13)[44]/45,XY,.13[6]
Subtelomer 13qter present
 GTG
FISH
 		DD, microcephaly, growth retardation, DYS, hypotonia
 {1605 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p13q34/
2-1
 		female/
  newborn
 		PBL dn
 		46,XX,r(13)(p13->q11.1::q22->q33)
 GTG
 		DD, microcephaly, growth retardation, DYS {315, case 4}
RC/W-
13-
p13q34/
3-1
 		male/
3y
 		PBL dn
 		46,XY,r(13)(p13->q11.1::q12.11->q34) Subtelomer 13qter absent
acc. to aCGH 4.22Mb loss at 13qter 		GTG
FISH
aCGH 		DD, microcephaly, growth retardation, DYS {349, case 3}
RC/W-
13-
p13q34/
4-1
 		male/
1y
 		PBL dn
 		46,XY,r(13)(p13->q34::q21.33->q34)
dynamic mosaicism: ~12%
 acc. to aCGH 43MB dup q21.33-q34 and 0.3Mb loss at 13qter 		GTG
FISH
aCGH
 DD, microcephaly, growth retardation, DYS {78, case 6}
RC/W-
13-
p12q12/
1-1
 		female/
newborn
 		PBL ?dn
 		46,XX,r(13)(p12q12)
dynamic mosaicism: 46,XX[125]/46,XX,r(13)[5]
 		GTG
 		DD, microcephaly, growth retardation, DYS {339}
RC/W-
13-
p12q14/
1-1
 		male/
abortus
 		fibros dn
 		46,XY,r(13)(p12q14)
 GTG
FISH
 abortion in week 29; anecephaly {1526, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p12q22/
1-1
 		male/
newborn
 		PBL dn
 		46,XY,r(13)(p12q22)
 		GTG
 		DD, microcephaly, growth retardation, DYS {308}
RC/W-
13-
p12q31/
1-1
 		male/
~2.5y
 		PBL dn
 		46,XY,r(13)(p12q31)
 		GTG
 		DD, microcephaly, growth retardation, DYS {314}
RC/W-
13-
p12q31/
1-2
 		female/
~2.5y
 		PBL dn
 		46,XX,r(13)(p12q31)
dynamic mosaicism.
46,XX,r(13)[33]/45,XX,-13[6] 		GTG
 		n.a. {1545, case MS-120 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p12q32.1/
1-1
 		female/
prenatal
 		AF ?dn
 		46,XX,r(13)(p12q32.1)
dynamic mosaicism.
46,XX,r(13)/45,XX,-13
 acc. to aCGH 20Mb loss at 13qter
 GTG
aCGH
 		  growth retardation, DYS, holoprosencephaly, heart defect {1602 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p12q32.3/
1-1
 		female/
prenatal
 		  PBL dn
 		46,XX,r(13)(p12q32.3)
 		GTG
 		  growth retardation, DYS; sepsis at day 3 {1501 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p12q34/
1-1
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p12q34)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {299}
 literature not accessible
RC/W-
13-
p12q34/
1-2
 		n.a./
n.a.
 		PBL ?dn
 		46,XN,r(13)(p12q34)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {306}
 literature not accessible
RC/W-
13-
p12q34/
1-3
 		male/
child 		PBL ?dn
 		46,XY,r(13)(p12q34) GTG
 		DD, microcephaly, growth retardation, DYS {592, case 4}
RC/W-
13-
p12q34/
1-4
 		male/
newborn 		PBL dn

46,XY,r(13)(p12q34)

dynamic mosaicism: 46,XY,r(13)[21]/46,XY,dr(13)[12]/45,XY,-13[5] 		GTG
 		heart disease, DYS {624, case 11}
RC/W-
13-
p11q13/
1-1 		male/
prenatal
 		AF dn
 		46,XY,r(13)(p11q13)
 		GTG
 		DD, DYS, TOP
 {310, 328 case 11}
RC/W-
13-
p11q13/
1-2 		female/
~1.25y
 		PBL
fibros
 		?dn
 		in fibros: 46,XX,r(13)(p11q1?3)
in fibros r(13) in 95%
in PBL r(13) in 0%
 		GTG
 		DD, DYS, skoliosis; dispigmentation
 {1514 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q14/
1-1
 		female/
1.5y
 		PBL
 dn
 		  46,XX,r(13)(p11q14)/
46,XX,der(13)(qter->cen::q14->qter)
 		GTG
FISH
 		DD, microcephaly, growth retardation, DYS, anencephaly  {331}
RC/W-
13-
p11q14/
1-2
 		female/
7y
 		PBL
fibros
 		?dn
 		  46,XX,r(13)(p11q14)
in fibros r(13) in 70-80%
in PBL r(13) in 0%
 		GTG
FISH
 		DD, microcephaly, left hemiatropy, DYS {1547 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q14/
2-1
 		male/
postnatal
 		PBL
 ?dn
 		  46,XY,r(13)(p11q14)
 		GTG
 		DD, DYS {1520, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q21.1/
1-1
 		male/
stillborn
 		PBL
 dn
 		46,XY,r(13)(p11q21.1)
 		GTG
 		DD, microcephaly, growth retardation, DYS, anencephaly  {321}
RC/W-
13-
p11q21.31/
1-1
 		female/
newborn
 		PBL
 dn
 		46,XX,r(13)(p11q21.31)
acc. to aCGH 51Mb loss at 13qter
 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS {354, case 2; 1590, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q22/
1-1
 		female/
prenatal
 		AF
 ?dn
 		46,XX,r(13)(p11q22)
 		GTG
 		DYS, TOP {1510 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31/
1-1
 		male/
postnatal
 		PBL ?dn
 		46,XY,r(13)(p11q31)
 		GTG
 		pseudoherm-aphroditism {1499, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31/
1-2
 		male/
postnatal
 		PBL ?dn
 		46,XY,r(13)(p11q31)
 		GTG
 		holoprosencephaly {1505, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31/
2-1
 		female/
0.25y
 		PBL ?dn
 		46,XX,r(13)(p11q31)
dynamic mosaicism:
46,XX,r(13)[40]/46,XX,psu dic(I13)(pter->q31::q31->pter)[60] 		GTG
 		DD, microcephaly, growth retardation, DYS; Pätau syndrome {1524 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31.1/
1-1
 		female/
newborn
 		PBL dn
 		46,XX,r(13)(p11q31.1)
dynamic mosaicism: 46,XX,r(13)[421/500]
acc. to aCGH 30Mb loss at 13qter
 		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {360, case 3}
RC/W-
13-
p11q31.1/
1-2
 		female/
postnatal
 		PBL ?dn
 		46,XX,r(13)(p11q31.1)
acc. to aCGH 32.1Mb loss at 13qter
 		GTG
aCGH
 		DD, microcephaly, micrognathia, growth retardation, DYS {1477 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31.2/
1-1
 		male/
~0.7y
 PBL ?dn
 		46,XY,r(13)(p11q31.2)
dynamic mosaicism: 46,XY,r(13)[9]/46,XY[13]
acc. to aCGH 25.3Mb deletion  		GTG
aCGH
 		mild DD, microcephaly, growth retardation, DYS {537, case 3}
RC/W-
13-
p11q31.3/
1-1
 		male/
prenatal
 		AF
 ?dn
 		46,XY,r(13)(p11q31.3)
dynamic mosaicism: 46,XY,r(13)[18]/46,XY,dic r(13)[2]
acc. to aCGH 21.69Mb loss at 13qter
 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS; TOP {95, case 2}
RC/W-
13-
p11q31.3/
1-2
 		n.a./
postnatal
 		PBL
 dn
 		46,XN,r(13)(p11q31.3)
acc. to aCGH 26.5Mb loss at 13qter
 		GTG
aCGH
 		no details provided {1099, case 3}
RC/W-
13-
p11q31.3/
1-3
 		male/
prenatal
 		AF
 dn
(mother seems to have r(13 ) as gonadal mosaic)
 		46,XY,r(13)(p11q31.3)
dynamic mosaicism: 46,XY,r(13)[18]/45,XY,-13[8]/46,XY,-13,+mar[14]
acc. to aCGH 22.82Mb loss at 13qter
 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS; TOP {361, 362; 1563}
RC/W-
13-
p11q31.3/
1-4
 		male/
prenatal
 		AF
 dn
46,XY,r(13)(p11q31.3)
dynamic mosaicism: acc. to aCGH  loss at 13qter
data unclear or not accessable
 		GTG
aCGH
 		DD, holoprosencephaly, growth retardation, DYS; TOP {347, case 2; 1557, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q31.3/
1-5
 		n.a./
prenatal
 		AF dn
 		46,XN,r(13)(p11q31.3)
dynamic mosaicism: 46,XN,r(13)[61]/45,XN,-13[24]
acc. to aCGH 20.6Mb loss at 13qter
 		GTG
aCGH
 		DYS, TOP {1473, case P2546 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-1
 		male/
newborn
 		PBL
 ?dn
 		46,XY,r(13)(p11q32)
 		GTG
 		DD, microcephaly, growth retardation, DYS {326}
RC/W-
13-
p11q32/
1-2
 		male/
0.25y
 		PBL
 dn
 		46,XY,r(13)(p11q32)
dynamic mosaicism:
46,XY,r(13)(p11q32)[32]/45,XY,-13[8]
acc. to aCGH 33.77Mb loss at 13qter
GTG
aCGH
 		DD, microcephaly, growth retardation, DYS {327; 1099, case 9; 1103, case 10}
RC/W-
13-
p11q32/
1-3
 		male/
2.5y
 		PBL
 ?dn
 		46,XY,r(13)(p11q32)
 		GTG
 		DD, microcephaly, growth retardation, DYS {332; 1512  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-4
 		female/
prenatal
 		AF
 dn
 		46,XX,r(13)(p11q32)
dynamic mosaicism:
46,XX,r(13)(p11q32)[77]/45,XX,-13[23] 		GTG
 		DD, microcephaly, growth retardation, DYS; TOP {334}
RC/W-
13-
p11q32/
1-5
 		male/
newborn
 		PBL
 ?dn
 		46,XY,r(13)(p11q32)
dynamic mosaicism:
46,XY,r(13)/45,XY,-13 		GTG
 		DD, microcephaly, growth retardation, DYS {370; 1506 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-6
 		male/
newborn
 		PBL
 ?dn
 		46,XY,r(13)(p11q32)
 		GTG
 		growth retardation, occipital encephalocele, hydrocephalus, holoprosencephaly, DYS {1525, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-6
 		female/
~3.5y
 		PBL
 dn
 		46,XX,r(13)(p11q32) GTG
 		DD, microcephaly, micrognathia, growth retardation, DYS {1508 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-7
 		female/
stillborn
 		PBL
 ?dn
 		46,XX,r(13)(p11q32) GTG
 		anencephalygrowth retardation, DYS {1508 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32.1/
1-1
 		n.a./
postnatal
 		PBL
 dn
 		46,XN,r(13)(p11q32.)
acc. to aCGH 18.2Mb loss at 13qter 		GTG
FISH
aCGH
 		no deails provided {1099, case 4}
RC/W-
13-
p11q32.2/
1-1
 		male/
newborn
 		PBL
 ?dn
 		46,XX,r(13)(p11q32.2) GTG
 		DD, microcephaly, micognathia, growth retardation, DYS, heart defect {1518 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32.3/
1-1
 		female/
newborn
 		PBL
 ?dn
 		46,XX,r(13)(p11q32.3)
dynamic mosaicism: 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]
acc. to aCGH 15.39Mb loss at 13qter  		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {353}
RC/W-
13-
p11q32.3/
1-2
 		female/
newborn
 		PBL
 dn
 		46,XX,r(13)(p11q32.3)
dynamic mosaicism: 46,XX,r(13)[421/500]
acc. to aCGH 13Mb loss at 13qter  		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {360, case 1}
RC/W-
13-
p11q32.3/
1-3
 		female/
adult
 		PBL
 ?dn
 		46,XX,r(13)(p11q32.3)
dynamic mosaicism: 46,XX,r(13)(p11q32.3)[93%]/
46,XX,r(13)(::p11->q32.3::p11->q32.2::)[7%] 		GTG
FISH
aCGH
 		DD, DYS {541, case 5}
RC/W-
13-
p11q32.3/
1-4
 		female/
prenatal
 		AF
 dn
 		46,XX,r(13)(p11q32.3)
dynamic mosaicism: 46,XX,r(13)(p11q32.3)[55]/45,XX,-13[15] 		GTG
 		DD, DYS; TOP {579, case 23}
RC/W-
13-
p11q32.3/
1-5
 		male/
newborn

PBL

?dn

46,XY,r(13)(p11q32.3)

aCGH: ~14.5MB loss in 13qter

GTG

aCGH

DD, growth retardation, DYS

 {1205}
RC/W-
13-
p11q32.3/
1-6
 		n.a./
postnatal

PBL

?dn

46,XN,r(13)(p11q32.3)

aCGH: ~14.5MB loss in 13qter

GTG

aCGH

n.a.

 {1579, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33/
1-1
 		female/
~0.5y 		PBL
 dn

46,XX,r(13)(p11q33)

dynamic mosaicism: 46,XX,r(13)/45,XX,-13
?47,XN,r(13)(p11q34),+mar
GTG
FISH
 		DD, microcephaly, DYS, hypotonia {312; 588; 625, case 13-1}
RC/W-
13-
p11q33/
1-2
 		female/
stillborn 		PBL
 dn

46,XX,r(13)(p11q33)

 GTG
 		DD, growth retardation, DYS {1523 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33/
1-3
 		female/
prenatal 		AF
 ?dn

46,XX,r(13)(p11q33)

dynamic mosaicism:
46,XX,r(13)[18]/45,XX,-13[12]

 GTG
 		DD, growth retardation, DYS {1533 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33/
1-4
 		female/
9y 		PBL
 ?dn

46,XX,r(13)(p11q33)
subtel 13qter lost

GTG
FISH
 		  growth retardation, DYS, seitures {1536 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33/
1-5
 		male/
abortion 		AF, skin
 ?dn

46,XY,r(13)(p11q33)
subtel 13qter lost
dynamic mosaicism only in (hypopigmented) skin:
46,XY,r(13)[36/46]/45,XY,-13[14/4]

 GTG
FISH
 		  growth retardation, DYS, dispigmentation {1558 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33/
1-6
 		male/
~8.8y 		PBL
 ?dn

46,XY,r(13)(p11q33)
subtel 13qter lost
dynamic mosaicism
46,XY,r(13)[42]/45,XY,-13[5]/46,XY[3]

 GTG
FISH
 		  DD, overgrowth, DYS {1559 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.1/
1-1
 		n.a./
12y 		PBL
 dn

46,XN,r(13)(p11->q33.1::q33.1->q31.1)

acc. to aCGH 20Mb loss at 13qter and dup at 13q31.1q33.1 of 10Mb
 GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS, hypotonia {1099, case 7}
RC/W-
13-
p11q33.1/
1-2
 		n.a./
newborn 		PBL
 ?dn

46,XN,r(13)(p11->q33.1::q32.1->q33.1)

dynamic mosaicism
acc. to aCGH 11.7Mb loss at 13qter and dup at 13q32.1q33.1 of 5.4Mb
 GTG
aCGH
 		n.a.
 {1597, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.1/
2-1
 		male/
18y 		PBL
 ?dn

46,XY,r(13)(p11q33.1)

acc. to aCGH ~13.5Mb loss at 13qter
GTG
aCGH
 		DD, microcephaly, growth retardation, DYS
 {1554, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.2/
2-1
 		male/
newborn
 		PBL
 dn
 		46,XN,r(13)(p11->q33.1::q31.1->q33.1)
acc. to aCGH 10Mb loss at 13qter and dup at 13q31.1q33.1 of 10Mb 		GTG
FISH
aCGH
 		  DD, microcephaly, DYS {1099, case 10}
RC/W-
13-
p11q33.2/
1-1
 		male/
newborn
 		PBL
 dn
 		46,XY,r(13)(p11q33.2)
acc. to aCGH 9.3Mb loss at 13qter 		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {343}
RC/W-
13-
p11q33.2/
1-2
 		male/
1y
 		PBL
 dn
 		46,XXY,r(13)(p11q33.2)
acc. to aCGH 8.5Mb loss at 13qter 		GTG
FISH
aCGH
 		Klinefelter-syndrome; DD, microcephaly, growth retardation, DYS {344}
RC/W-
13-
p11q33.2/
1-3
 		n.a./
postnatal
 		PBL
 dn
 		46,XN,r(13)(p11q33.2)
acc. to aCGH ~10Mb loss at 13qter 		GTG
FISH
aCGH
 		no details provided {1099, case 11}
RC/W-
13-
p11q33.2/
1-4
 		male/
postnatal
 		PBL
 ?dn
 		46,XY,r(13)(p11q33.2)
acc. to aCGH ~10Mb loss at 13qter 		GTG
FISH
aCGH
 		DD, microcephaly, DYS {1530, case 1; 1531; 1532 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.3/
1-1
 		male/
newborn
 		PBL
 dn
 		46,XY,r(13)(p11q33.3)
dynamic mosaicism: 46,XX,r(13)[429/500]
acc. to aCGH 6.8Mb loss at 13qter  		GTG
FISH
aCGH
 		Klinefelter-syndrome; DD, microcephaly, growth retardation, DYS {360, case 2}
RC/W-
13-
p11q33.3/
1-2
 		male/
child
 PBL ?dn
 		46,XY,r(13)(p11q33.3)
acc. to aCGH 7.1Mb deletion  		GTG
aCGH
 		mild DD, microcephaly, growth retardation, DYS {537, case 2}
RC/W-
13-
p11q33.3/
1-3
 		female/
child
 PBL ?dn
 		46,XX,r(13)(p11q33.3)
acc. to aCGH 7.4Mb deletion at 13qter 		GTG
aCGH
 		mild DD, microcephaly, growth retardation, DYS, dispigmentation {537, case 3}
RC/W-
13-
p11q33.3/
1-4
 		female/
child
 PBL ?dn
 		46,XX,r(13)(p11q33.3)
dynamic mosaicism: 46,XX,r(13)(p11q33.3)[13]/
46,XX,r(13,13)(::p11->q33.3::p11->q33.3::)[1]/
45,XX,-13[1] 		GTG
FISH
 		  DD, microcephaly, growth retardation, DYS {541, case 4}
RC/W-
13-
p11q33.3/
1-5
 		n.a./
postnatal
 PBL dn
 		46,XN,r(13)(p11q33.3)
acc. to aCGH 8.2Mb loss at 13qter  		GTG
aCGH
 		no details provided {1099, case 6}
RC/W-
13-
p11q33.3/
1-6
 		female/
~1y
 PBL dn
 		46,XN,r(13)(p11q33.3)
acc. to aCGH 6.3Mb loss at 13qter  		GTG
aCGH
 		growth retardation {1528 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.3/
1-7
 		male/
prenatal 		AF
 ?dn

46,XY,r(13)(p11q33.3)

acc. to aCGH ~7.4Mb loss at 13qter
GTG
aCGH
 		growth retardation, DYS, TOP
 {1580 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.3/
1-8
 		female/
10y
 		PBL
 ?dn

46,XY,r(13)(p11q33.3)

aCGH not provided; dynamic mosaic with a small r(13)(p11q14.1)
GTG
FISH
aCGH
 		n.a.
 {1610 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.3/
2-1
 		n.a./
stillborn
 PBL dn
 		46,XN,r(13)(r(13)(p11->q33.3::q33.1->q33.3)
acc. to aCGH 5.9Mb deletion and dup in 13q33.1q33.3 of 5.8 Mb  		GTG
aCGH
 		DYS {1099, case 5}
RC/W-
13-
p11q33.3/
2-2
 		female/
postnatal
 PBL ?dn
 		46,XX,r(13)(p11->q33.3::q33.1->q33.3)
acc. to aCGH 7.3Mb term. deletion and dup in 13q33.1q33.3 of ? Mb  		GTG
aCGH
 		Tremors {1567, case GC38843 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q33.3/
3-1
 		female/
prenatal
 		AF
 ?dn
 		46,XX,r(13)(p11->q12.3~14.13:
:q22.2->q32.3~q33.3),
also written in paper: the breakpoints of the ring 13 were not determined; The interstitial deletion showed a “gradient” in copy number varying from “deleted” to “balanced,” suggesting that the patient presents a mosaicism for the r(13), with variable sizes of the secondary deletion. 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS, TOP {587, case D}
RC/W-
13-
p11q33~34/
1-1
 		female/
prenatal
 AF
 ?dn
 		46,XX,r(13)(p11q33~34)
dynamic mosaicism: 45,XX,-13[50]/
46,XX,r(13)(p11q33~34)[50] 		GTG
FISH
 		 growth retardation, TOP {541, case 6}
RC/W-
13-
p11q34/
1-1
 		female/
2.5y
 		PBL dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS; dispigmentation  {295}
RC/W-
13-
p11q34/
1-2
 		female/
  ~13y
 		PBL ?dn
 		46,XX,r(13)(p11q34)
 		GTG
 		DD, microcephaly, growth retardation, DYS {298} 
RC/W-
13-
p11q34/
1-3
 		female/
  ~5y
 		PBL ?dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism 		GTG
 		DD, microcephaly, growth retardation, DYS {307, case 1} 
RC/W-
13-
p11q34/
1-4
 		male/
  adult
 		PBL ?dn
 		46,XY,r(13)(p11q34)
 		GTG
 		mild DD, microcephaly, growth retardation, DYS {311}
literature not accessible
RC/W-
13-
p11q34/
1-5
 		female/
~0.8y
 		PBL dn
 		46,XX,r(13)(p11q3?4)
dynamic mosaicism including shortened ring 		GTG
 		DD, microcephaly, growth retardation, DYS {320}
RC/W-
13-
p11q34/
1-6
 		male/
?newborn
 		PBL ?dn
 		46,XY,r(13)(p11q34) GTG
 		DD, microcephaly, growth retardation, DYS {336}
 literature not accessible
RC/W-
13-
p11q34/
1-7
 		male/
~0.3y
 		PBL dn
 		46,XY,r(13)(p11q34) GTG
 		DD, microcephaly, growth retardation, DYS {342}
RC/W-
13-
p11q34/
1-8
 		male/
15y
 		PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism: 46,XY,r(13)[40]/45,XY,-13[10]
acc. to aCGH 3.7Mb loss at 13qter 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {95, case 1; 1548 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34/
1-9
 		male/
3y
 		PBL dn
 		46,XY,r(13)(p11q34)
Subtelomer 13qter absent
 		GTG
FISH
 		mild DD, microcephaly, growth retardation, DYS {349, case 1}
RC/W-
13-
p11q34/
1-10
 		female/
4y
 PBL dn
 		46,XY,r(13)(p11q34)
Subtelomer 13qter absent
acc. to aCGH 4.7Mb loss at 13qter
 		GTG
FISH
aCGH
 		mild DD, microcephaly, growth retardation, DYS {349, case 2}
RC/W-
13-
p11q34/
1-11
 		male/
~1y
 		PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism: 46,XY,r(13)(p11q34)[83]/45,XY,-13[17] 		GTG
 		DD, microcephaly, growth retardation, DYS {350}
RC/W-
13-
p11q34/
1-12
 		male/
17y
 		fibros ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism: 46,XY,r(13)[19]/45,XY,-13[2]/46,XY,-13,+mar[1] 		GTG
 		DD, microcephaly, growth retardation, DYS {357}
RC/W-
13-
p11q34/
1-13
 		male/
~0.75y
 		PBL ?dn
 		46,XY,r(13)(p11q34)
 		GTG
 		DD, microcephaly, growth retardation, DYS {359}
RC/W-
13-
p11q34/
1-14
 		male/
~3y
 		PBL ?dn
 		46,XY,r(13)(p11q34)
 		GTG
 		DD, microcephaly, growth retardation, DYS {364}
RC/W-
13-
p11q34/
1-15
 		female/
~0.3y
 PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism: BL (3 y): 46,XX, SF(4 y): 46,XX/46,XX,r(13)
 		GTG
 		mild DD, microcephaly, growth retardation, DYS {365}
RC/W-
13-
p11q34/
1-16
 		female/
~1y
 PBL dn
 		46,XX,r(13)(p11q34)
 		GTG
 		mild DD, microcephaly, growth retardation, DYS {570}
RC/W-
13-
p11q34
1-17
 		male/
2y
 PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism
 		GTG
 		mild DD, microcephaly, growth retardation, DYS {571}
RC/W-
13-
p11q34/
1-18
 		female/
~0.1y 		PBL dn
 		46,XX,r(13)(p11q34)
 		GTG
 		DD, DYS, heart disease {624, case 8}
RC/W-
13-
p11q34/
1-19
 		female/
1y 		PBL dn
 		46,XX,r(13)(p11q34)
acc. to aCGH 4.5Mb loss at 13qter 		GTG
 		DD, growth retardation, DYS, hypotonia {1099, case 8; 1103, case 14}
RC/W-
13-
p11q34/
1-20

female/
prenatal

AF

?dn

46,XX,r(13)(p11q34)

dynamic mosaicism:

46,XX,r(13)[34]/46,XX[6] 		GTG
aCGH

DYS, TOP

 {1103}
RC/W-
13-
p11q34
1-21
 		male/
8y
 PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism; dr(13), r(13)x2
no percentage given
 		GTG
 		DD, microcephaly, growth retardation, DYS, dispigmentation {1488, case 3 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-22
 		female/
postnatal
 PBL ?dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism:
46,XX,r(13)[89]/46,XX,dr(13)[9]/ 45,XX,-13[2]
acc. to FISH subtel 13qter lost
 		GTG
FISH		 multiple malformations {1513 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-23
 		female/
newborn
 PBL ?dn
 		46,XX,r(13)(p11q34)
 		GTG
 DD, microcephaly, DYS.
also congenital adrenal hyperplasia 		{1519 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-24
 		male/
postnatal
 PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism:
46,XY,r(13)[22]/46,XY[26]/ 45,XY,-13[14]/45,XY-13,-13,+r(13)[10] 		GTG
 n.a. {1537; 1589 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-25
 		female/
prenatal
 AF ?dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism:
46,XX,r(13)[87]/46,XX[13] 		GTG
 DYS {1538 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-26
 		male/
3y
 PBL ?dn
 		46,XY,r(13)(p11q34)
 GTG
 DD, microcephaly, growth retardation, DYS
 {1539, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-27
 		n.a./
~10y
 PBL ?dn
 		46,XN,r(13)(p11q34)
 GTG
 DD, microcephaly, growth retardation, DYS
 {1546, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-28
 		male/
postnatal
 PBL dn
 		46,XY,r(13)(p11q34)
acc. to MLPA subtel 13qter loss
 GTG
MLPA
 DD, microcephaly, micrognathia, growth retardation, DYS
 {1556, case 156 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-29
 		male/
15y
 PBL ?dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism:
46,XY,r(13)[40]/45,XY,-13[10]
data unclear or not accessable 		GTG
aCGH		 multiple malformations {347, case 1; 1557, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-30
 		male/
4y
 PBL dn
 		46,XY,r(13)(p11q34)
dynamic mosaicism:
46,XY,r(13)[98]/45,XY,-13[2]
MLPA - sutel 13qter lost 		GTG
MLPA		 DD, microcephaly,  growth retardation, DYS {1599 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34
1-31
 		female/
~0.5y
 PBL ?dn
 		46,XYX,r(13)(p11q34)
dynamic mosaicism:
46,XX,r(13)[27]/46,XX[3]
in aCGH no gain or loss 		GTG
aCGH		 DYS, heart defect {1600 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34/
2-1
 		male/
prenatal
 		AF
 dn
 		46,XY,r(13)(p11->q31.1::q12.11->q31.3)
dynamic mosaicism: 46,XY,r(13)[114]/45,XY,-13[3]
acc. to aCGH 23.46Mb loss at 13qter
and dup of 72.08Mb 13q12.11q31.3 		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS; TOP {355}
RC/W-
13-
p11q34/
3-1
 		female/
0.5y
 		PBL
 dn
 		46,XX,r(13)(p11->q33.2::q11->q33)
dynamic mosaicism: 46,XX,r(13)[82]/45,XX,-13[10]/46,XX,r(13;13)[8]
acc. to aCGH 8.2Mb loss at 13qter and dup of 87.5 Mb in 13q11q33.2 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS {356}
RC/W-
13-
p11q34/
4-1
 		female/
prenatal
 		AF
 dn
 		46,XX,r(13)(p11->q31.1::q21.32->q31.1)
dynamic mosaicism: 46,XX,r(13)[40]/45,XX,-13[10]
acc. to aCGH 31.3Mb loss at 13qter and dup of 16.3Mb in 13q21.32q31.1  		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS; TOP {363}
RC/W-
13-
p11q34/
5-1
 		female/
newborn
 		PBL
 dn
 		46,XX,r(13)(p11->q21.33::q14.11->q33.21)
dynamic mosaicism: 46,XX,r(13)[88]/45,XX,-13[7]/46,XX,dic  r(13)[5]
acc. to aCGH dup in 43.2-71,65Mb and terminal 10.22Mb deletion  		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {536}
RC/W-
13-
p11q34/
6-1
 		female/
0.5y
 		PBL
 dn
 		47,XX,r(13)(p11->q21.2::q21.2->q32.3:
:q33.2->q33.3),
+mar
acc. to aCGH 7.9Mb loss at 13qter; also loss of 0.977Mb at 13q21.2 and of 5.4Mb at 13q32.3q33.2 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS {354, case 1; 1590, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q34/
7-1
 		female/
postnatal
 		PBL
 ?dn
 		46,XX,r(13)(p11q34)
dynamic mosaicism: 46,XX,r(13)[80]/46,XX,del(13)(q14.2q34)[20] 		aCGH
 		DD, microcephaly, growth retardation, DYS, dispigmentation {1486 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q12.3/
1-1
 		male/
postnatal
 		PBL
fibro
 		?dn
 		46,XY,r(13)(p11.2q12.3)
dynamic mosaicism: 46,XY,r(13)[7]/46,XY,der(13)t(13;13)(p11.2q12.3)[14] 		GTG
 		DYS, dispigmentation, heart defect; Pätau syndrome {1542 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q13/
1-1
 		male/
2y
 		PBL
 		?dn
 		46,XY,r(13)(p11.2q13)
dynamic mosaicism:
46,XY,r(13)[12]/46,XY[18] 		GTG
 		DD,  hypotonia, DYS, dispigmentation {1564 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q21/
1-1
 		female/
prenatal
 		AF ?dn
 		46,XX,r(13)(p11.2q21)
 GTG
 		DYS, heart defect, holoprosencephay, ?TOP {1521, case 22 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q32/
1-1
 		female/
stillborn
 		PBL dn
 		46,XX,r(13)(p11.2q32)
 GTG
 		growth retardation, micrognathia, DYS, heart defect {1525, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q32/
1-2
 		female/
18y
 		PBL ?dn
 		46,XX,r(13)(p11.2q32)
dynamic mosaicism:46,XX,r(13)[77]/46,XX,dr(13)[6]/45,XX,-13[17] 		GTG
 		growth retardation, DYS {1549 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q32/
1-3
 		female/
1.5y
 		PBL ?dn
 		46,XX,r(13)(p11.2q32)
dynamic mosaicism:46,XX,r(13)[53]/46,XX,dr(13)[2]/45,XX,-13[10]/47,XX,r(13)x2[2] 		GTG
 		DD, microcephaly, growth retardation, DYS {1587 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11q32/
1-4
 		male/
prenatal
 		AF ?dn
 		46,XY,r(13)(p11.2q32)
dynamic mosaicism: 46,XY,r(13)/45,XY-13
GTG
 		postnatal: DD, growth retardation, DYS {337}
RC/W-
13-
p11.2q32.1/
1-1
 		female/
7y
 		PBL ?dn
 		46,XX,r(13)(p11.2->q32.1::q32.1->q32.1)
dynamic mosaicism:
46,XY,r(13)[90]/46,XX,r(var)(13)[2]/45,XX,-13[6]
acc. to aCGH 18.6Mb loss at 13qter and ~1.5Mb loss at 13q32.1
 GTG
aCGH
 		DYS, DD,  growth retardation, microcephaly, hypotonia  {1229}
RC/W-
13-
p11.2q33/
1-1
 		male/
2.1y
 		PBL ?dn
 		46,XY,r(13)(p11.2q33)
acc. to aCGH ~6Mb loss at 13qter
GTG
FISH
aCGH
 		DYS, DD,  microcephaly, hypotonia, dispigmentation {1298} case RC 13-1
RC/W-
13-
p11.2q33.2/
1-1
 		male/
newborn
 PBL ?dn
 		46,XY,r(13)(p11.2->q33.2::q32.1->q33.2)
acc. to aCGH 8.9Mb term. deletion and dup in 13q32.1q33.2 of 10.3 Mb  		GTG
aCGH
 		DD, growth retardation, DYS, heart defect {1589 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q33.3/
1-1
 		male/
newborn
 PBL ?dn
 		46,XY,r(13)(p11.2->q33.3::q12.11->q33.3)
dynamic mosaicism: 46,XY,r(13)[17]/45,XY,-13[2]/46,XY,dr(13)[1]
acc. to aCGH 8.2Mb term. deletion and dup in 13q12.11q33.3 of ? Mb  		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS {1581; 1582 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q33.3~34/
1-1
 		male/
prenatal
 		AF ?dn
 		46,XY,r(13)(p11.2q33.3~34)
dynamic mosaicism:  46,XY,r(13)(p11.2q33.3~34)[9]/
46,XY,r(13)(::p11.2q33.3~34::p11.2q33.3~34::)[1] 		GTG
 		DD, growth retardation, DYS; TOP {542, case 3}
RC/W-
13-
p11.2q34/
1-1
 		male/
newborn
 		PBL dn
 		46,XY,r(13)(p11.2q34)
dynamic mosaicism:  46,XY,r(13)(p11.2q34)[51]/45,XY,-13[12]/ 46,XY,dic r(13)(p11.2q34)[1]  		GTG
 		DD, microcephaly, growth retardation, DYS; dispigmentation  {95, case 2}
RC/W-
13-
p11.2q34/
1-2
 		male/
3.5y
 		PBL dn
 		46,XY,r(13)(p11.2q34)
acc. to aCGH 4.11Mb loss at 13qter 		GTG
aCGH
 		DD, microcephaly, growth retardation, DYS; dispigmentation  {351}
RC/W-
13-
p11.2q34/
1-3
 		female/
~3y
 		PBL
fibros
 		dn
 		46,XX,r(13)(p11.2q34)
dynamic mosaic only in fibros:
46,XX,r(13)[6]/45,XX,-13[4]/
46,XX,-13,+mar[10]
subtel 13qter lot
acc. to aCGH 4.2Mb loss at 13qter 		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS {560; 1570 - provided by Dr. I. Lurie, Maryland, USA} 
RC/W-
13-
p11.2q34/
1-4 		female/
~3y
 		PBL ?dn
 		46,XX,r(13)(p11.2q34)
dynamic mosaicism:
45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)[5]
acc. to aCGH 3.6Mb loss at 13qter
 GTG
aCGH
 		DD, microcephaly, DYS {1232, case 3; 1608 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q34/
1-5 		female/
~40y
 		PBL ?dn
 		46,XX,r(13)(p11.2q34)
 GTG
 DD mild, seizures {1298} case RC 13-2
RC/W-
13-
p11.2q34/
1-6 		male/
~0.5y
 		PBL ?dn
 		46,XX,r(13)(p11.2q34)
dynamic mosaicism:
46,XX,r(13)[70%]
30% of cells with either trisomy 13 and trob, or monosomy 13

GTG
 DD, microcephaly,DYS, heart defect, no Pätau syndrome signs
 {1560 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q34/
1-7 		male/
9y
 		PBL ?dn
 		46,XY,r(13)(p11.2q34)
dynamic mosaicism:
46,Xy,r(13)[45]/45,XY,-13[5]
30% of cells with either trisomy 13 and trob, or monosomy 13

GTG
 D, , growth retardation, DYS {1612 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.2q34/
2-1 		male/
newborn
 		PBL ?dn
 		46,XY,rob(13q13q)[48]/
46,XY,r(13)(p11.2q34)[2]
 		GTG
 Pätau-syndrome and DD, microcephaly, growth retardation, DYS {1611 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
13-
p11.1q32/
1-1 		male/
newborn
 		PBL ?dn
 		46,XY,r(13)(p11.1q32)
dynamic mosaicism: 46,XY,r(13)[28]/46,XY,dr(13)[2] 		GTG
 microcephaly, hypotonia
 {1298} case RC 13-3


Ref 566 - unclear if a case is reported