ChromosOmics - Database





                                                  - CHROMOSOME  15 -                                                

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 (triangular facies)
- DYS = dysmorphic facial features
- dermatological features (= dispigmentation incl. café-au-lait spots)
- also possible: micrognathia, retinal pigmentation, cardiac abnormalities and/or renal malformations, hypotonia, speech delay
- to be expected: (mosaic) Prader-Willi-syndrome / Angelman-syndrome
- IGF1R gene in 15q26.3 may be deleted - thus decrease in corresp. growth factor = 15q26 microdeletion syndrome in case of terminal deletion (OMIM 612626)

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-
15-
p1?1q2?6/
1-1
 		male/
1.7y 		PBL ?dn 46,XY,r(15)(p1?1q2?6) GTG Slight DD, microcephaly, growth retardation {468}
RC/O-
15-
p1?1q2?6/
 1-2
 		female/
~12y 		PBL ?dn 46,XX,r(15)(p1?1q2?6) GTG DD, growth retardation {469}
RC/O-
15-
p1?1q2?6/
1-3
 		male/
34y 		PBL ?dn

46,XY,r(15)(p1?1q2?6)

dynamic mosaicism:
46,XY,r(15)[92]/46,XY[5]/45,XY,-15[2]/ 46,XY,dr(15)[1]/ 		GTG Infertile, growth retardation, mild ID {475}
RC/O-
15-
p1?1q2?6/
1-4
 		male/
10.5y 		PBL

?dn

mother with trob(15;15) 		46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XY,r(15)[78]/46,XY,dr(15)[18]/ 47,XY,r(15)x2[2]
 GTG microcephaly, growth retardation, normal intelligence {477; 594, case 1}
RC/O-
15-
p1?1q2?6/
1-5
 		female/
33y 		PBL ?dn 46,XX,r(15)(p1?1q2?6) GTG Slight DD and DYS, growth retardation
2 children – more severly affected		 {482}
RC/O-
15-
p1?1q2?6/
1-6
 		female/
2.5y 		PBL ?dn 46,XX,r(15)(p1?1q2?6) GTG dispigmentation {500}
literature not accessible
RC/O-
15-
p1?1q2?6/
1-7
 		female/
adult 		PBL ?dn 46,XX,r(15)(p1?1q2?6) GTG Slight growth retardation and DYS, mild ID
one son with r(15) and more severe phenotype		 {501}
literature not accessible
RC/O-
15-
p1?1q2?6/
1-8
 		female/
adult 		PBL ?dn 46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
45,X,r(15)[5]/47,XXX,r(15)[3]/ 45,XX,-15[6]/46,XX,r(15)[86] 		GTG infertile {533}
literature not accessible
RC/O-
15-
p1?1q2?6/
1-9a and 1-9b
 		female/
adult 		PBL ?dn

46,XX,r(15)(p1?1q2?6)

 GTG
other
 		normal with hemihypertrophy of one leg and slight dispigmentation; child with many cafe au lait pspots and suggeston of NF1 {1698 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
15-
p13q26.3/
1-1 		male/
adult 		PBL ?dn

46,XY,r(15)(p13q26.3)

dynamic mosaicism:

46,XY,r(15)mat[45]/45,XY,-15[3]/ 47,XY,+dr(15)x2[1]/46,XY,dr(15)[1]

aCGH: deletion ~0.56Mb

GTG

FISH

aCGH 		Male with infertilty; mother no clinical signs, child with r(15) affected {520}
RC/O-
15-
p12q26.3/
1-1 		male/
adult 		PBL
sperm
 		?dn

46,XY,r(15)(p12q26.3)

No r(15) in sperm 		GTG microcephaly, growth retardation, DYS, check in sperm before ICSI {521}
RC/O-
15-
p12q26.3/
1-2 		female/
26y
 		PBL
 		?dn

46,XX,r(15)(p12q26.3)
dynamic mosaicism:
1/40 cells with loss of r(15)
subel 15q present

 GTG
FISH
 		microcephaly, growth retardation, normal intelligence {1696 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
15-
p12q26.3/
2-1 		female/
30y 		PBL ?dn

46,XX,r(15)(p12q26.3::q26.3->q26.3)

dynamic mosaicism:
46,XX,r(15[53]/46,XX,dr(15)var[28]/

45,XX,-15[10]/46,XX,dr(15)[4]

aCGH: terminal duplication 2Mb 		GTG
aCGH
 		Infertile and slight DYS {522}
RC/O-
15-
p11.2q26.3/
1-1 		female/
25y		 PBL
 		?dn 46,XX,r(15)(p11q26.3)
aCGH: terminal deletion ~0.4Mb 		GTG
aCGH
 		growth retardation, normal intelligence {1715, case 32 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
15-
p11q26.3/
1-1 		female/
21y		 PBL
fibros
 		?dn 46,XX,r(15)(p11q26.3)
dynamic mosaicism:  in blood: 46,XX[~50%]/46,XX,r(15)[~48%]/ 45,XX,-15[~4%]
in skin and fibrio no cells with 45,XX,-15! 		GTG growth retardation, normal intelligence {489}
RC/O-
15-
p11q26.3/
1-2
 		male/
12y 		PBL ?dn 46,XY,r(15)(p11q26.3)
dynamic mosaicism:
changes in ring size [4%] 		GTG microcephaly, growth retardation, almost normal intelligence {488}
RC/O-
15-
p11q26.3/
1-3
 		female/
adult 		PBL ?dn 46,XX,r(15)(p11q26.3)
subtel 15qter present 		GTG
FISH
 		Slight DD, microcephaly, growth retardation, DYS, mild ID
one son with r(15) and same phenotype 		{492}
literature not accessible
RC/O-
15-
p11q26.3/
1-4
 		female/
~0-5y 		AF/ PBL dn 46,XX,r(15)(p11q26.3)
 dynamic mosaicism:
46,XX,r(15)[88]/45,X,-15[11]/ 46,XX,dr(15)[1]
no imbalance in aCGH 		GTG
aCGH
 		normal at 7 months {1225}
RC/O-
15-
p11q26.3/
1-5
 		male/
33y 		  PBL ?dn

46,XY,r(15)(p11q26.3)
subtel 15qter present

 GTG
FISH
 		Infertile, growth retardation {1674, case 2 - 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-
15-
p1?1q2?6/
1-1
 		female/
1.3y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {459}
RC/W-
15-
p1?1q2?6/
1-2
 		female/
~2y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
changes in ring size 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {460}
RC/W-
15-
p1?1q2?6/
1-3
 		female/
11y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
changes in ring size 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {461}
RC/W-
15-
p1?1q2?6/
1-4
 		male/
1y 		PBL
?dn
 		46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:
changes in ring size 		solid staining
 DD, microcephaly, growth retardation, DYS {483}
RC/W-
15-
p1?1q2?6/
1-5
 		male/
8.5y 		PBL
?dn
 		46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XY,r(15)/45,XY,-15 		GTG DD, microcephaly, growth retardation, DYS {487}
RC/W-
15-
p1?1q2?6/
1-6
 		female/
37y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
 46,XX[57]/46,XX,r(15)[26]/47,XXX[17] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 1; 535}
RC/W-
15-
p1?1q2?6/
1-7
 		female/
27y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX[80]/46,XX,r(15)[20] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 2; 535}
RC/W-
15-
p1?1q2?6/
1-8
 		female/
17y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
  46,XX[~84]/46,XX,r(15)[~16] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 3; 535}
RC/W-
15-
p1?1q2?6/
1-9
 		female/
16y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX,r(15)[10]/46,XX[90] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 4; 535}
RC/W-
15-
p1?1q2?6/
1-10
 		female/
19y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX,r(15)[8]/46,XX[92] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 5; 535}
RC/W-
15-
p1?1q2?6/
1-11
 		female/
23y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
  46,XX[85]/46,XX,r(15)[5]/
45,XX,-15[10] 		GTG DD, microcephaly, growth retardation, DYS, uterine hypoplasia {462, case 6; 535}
RC/W-
15-
p1?1q2?6/
1-12
 		female/
1.25y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6) GTG DD, microcephaly, growth retardation, DYS {463}
RC/W-
15-
p1?1q2?6/
1-13
 		female/
13.5y 		PBL
dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX,r(15)[197]/46,XX,var(15)[3]  		GTG DD, microcephaly, growth retardation, DYS {465}
RC/W-
15-
p1?1q2?6/
1-14
 		female/
5.5y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX,r(15)/45,XX,-15 
GTG DD, microcephaly, growth retardation, DYS {466}
RC/W-
15-
p1?1q2?6/
1-15
 		male/
37y 		PBL
?dn
 		46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:
 46,XX,r(15)/45,XX,-15  		GTG DD, growth retardation, DYS {470}
RC/W-
15-
p1?1q2?6/
1-16
 		female/
2.5y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS, dispigmentation {346}
RC/W-
15-
p1?1q2?6/
1-17
 		female/
3y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation {473}
RC/W-
15-
p1?1q2?6/
1-18
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS {474}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-19
 		female/
newborn 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS {476}
RC/W-
15-
p1?1q2?6/
1-20
 		female/
newborn 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS {478}
RC/W-
15-
p1?1q2?6/
1-21
 		female/
3.75y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS {480}
RC/W-
15-
p1?1q2?6/
1-22
 		male/
0.5y 		PBL, fibros ?dn
 		46,XY,r(15)(p1?1q2?6) GTG DD, growth retardation {481; 54, case 2}
RC/W-
15-
p1?1q2?6/
1-23
 		female/
6y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS
 {289; 1670}
RC/W-
15-
p1?1q2?6/
1-24
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS
 {491, 1 case}
RC/W-
15-
p1?1q2?6/
1-25
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG
ISH
 DD, microcephaly, growth retardation, DYS
 {495, 1 case}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-26
 		female/
24y 		PBL
?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS,
dispigmentation 		{496}
literature not accessible}
RC/W-
15-
p1?1q2?6/
1-27
 		male/
0.75y 		PBL
?dn
 		46,XY,r(15)(p1?1q2?6)
 GTG
Southern blot		 DD, microcephaly, growth retardation, DYS, dispigmentation {497, case 5}
RC/W-
15-
p1?1q2?6/
1-28
 		n.a./
postnatal 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6) GTG
FISH		 DD, microcephaly, growth retardation, DYS, dispigmentation {510, case 1; 1700 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-29
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG
FISH		 DD, microcephaly, growth retardation, DYS {510, case 2}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-30
 		female/
prenatal 		AF
 		dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS, TOP {511}
RC/W-
15-
p1?1q2?6/
1-31
 		female/
~1.3y 		PBL
?dn

46,XX,r(15)(p1?1q2?6)

dynamic mosaicism:

46,XX,r(15)[96]/45,XX,-15[4] 		GTG
 DD, microcephaly, growth retardation, DYS
 {512}
RC/W-
15-
p1?1q2?6/
1-32 to 1-58
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS
 {513, 27 case mentioned from no longer available ECARUCA database} 
RC/W-
15-
p1?1q2?6/
1-59
 		female/
prenatal/ stillborn 		Umbil. PBL dn

46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:

46,XX,r(15)/45,XX,-15 		GTG
 DD, microcephaly, growth retardation, DYS
 {526}
RC/W-
15-
p1?1q2?6/
1-60
 		male/
11y 		PBL ?dn

46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:

46,XXY,r(15)[81]/46,XY[19] 		GTG
 DD, microcephaly, growth retardation, DYS
 {514}
RC/W-
15-
p1?1q2?6/
1-61
 		female/
17y 		PBL dn

46,XX,r(15)(p1?1q2?6)

 GTG
 DD, microcephaly, growth retardation, DYS,
dispigmentation 		{528}
RC/W-
15-
p1?1q2?6/
1-62
 		female/
~2.5y 		  PBL ?dn

46,XX,r(15)(p1?1q2?6)

 GTG
 DD, microcephaly, growth retardation, DYS,
dispigmentation 		{529}
RC/W-
15-
p1?1q2?6/
1-63
 		female/
~4.5y 		  PBL ?dn

46,XX,r(15)(p1?1q2?6)

 GTG
 DD, microcephaly, growth retardation, DYS,
dispigmentation 		{530}
RC/W-
15-
p1?1q2?6/
1-64
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG DD, microcephaly, growth retardation, DYS {532  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-65
 		male/
n.a. 		PBL
?dn
 		46,XY,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS {581}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-66

n.a./
n.a.

PBL

 ?dn
 		46,XN,r(15)(p1?1q2?6)
 GTG
 DD, DYS {1057, case 1}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-67

female/
newborn

PBL

?dn

 46,XX,r(15)(p1?1q2?6)

GTG

DD, microcephaly, growth retardation, DYS

{1207}
RC/W-
15-
p1?1q2?6/
1-68

female/
prenatal

fibros

?dn

 46,XX,r(15)(p1?1q2?6)

GTG

spotanous abortion

 {1238}
RC/W-
15-
p1?1q2?6/
1-69

male/
~2y

PBL

dn

 46,XY,r(15)(p1?1q2?6)

GTG

DD, microcephaly, micrognathia, growth retardation, DYS

{1282 - provided by Dr. I. Lurie, Maryland, USA, case 3}
RC/W-
15-
p1?1q2?6/
1-70

n.a./
n.a.

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD,  DYS

{1666 - provided by Dr. I. Lurie, Maryland, USA}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-71

female/
newborn

PBL

?dn

 46,XX,r(15)(p1?1q2?6)
only in placenta!
normal karyotype in child

GTG

DD, DYS, death after few days

 {1667 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-72

male/
postnatal

PBL

?dn

 46,XY,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1671 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-73 to 1-74

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1675, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-75

female/
40-49y

PBL

?dn

 46,XX,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XX,r(15)/45,XX,-15

GTG

DD, microcephaly, growth retardation, DYS

 {1677 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-76

n.a/
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS; PWS like

 {1680 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-77
 		female/
prenatal 		AF
 		?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS, TOP {1681 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-78

male/
~7y

PBL

dn

 46,XY,r(15)(p1?1q2?6)
dynamic mosaicism

GTG

DD, microcephaly, micrognathia, growth retardation, DYS

{1683 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-79

female/
newborn

PBL

?dn

 46,XX,r(15)(p1?1q2?6)

GTG
FISH

DYS

 {1686, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-80
 		female/
~12y 		PBL
 		?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS, dispigmentation, heart defect {1687 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-81

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS, hypomelanosis Ito

 {1690, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-82

n.a./
prenatal

AF

dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS, IUGR

 {1691 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-83

male/
5y

PBL

?dn

 46,XY,r(15)(p1?1q2?6)
dynamic mosaicism:
46,XY,r(15)[40]/46,XY[60]

GTG

DD, DYS

 {1695, case 5 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-84
 		female/
newborn 		PBL
 		?dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS {1699 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-85

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1708, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-86

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1709, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-87
 		female/
~1.8y 		PBL
 		dn
 		46,XX,r(15)(p1?1q2?6)
 GTG
 DD, microcephaly, growth retardation, DYS {1711 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-88

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1712, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-89

male/
postnatal

PBL

?dn

 46,XY,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1714, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-90

male/
6y

PBL

?dn

 46,XY,r(15)(p1?1q2?6)

GTG

DD

 {1719, case 9 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
1-91

n.a./
prenatal

AF

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {1722, 1 case - provided by Dr. I. Lurie, Maryland, USA}
literature not accessible
RC/W-
15-
p1?1q2?6/
1-92

n.a./
postnatal

PBL

?dn

 46,XN,r(15)(p1?1q2?6)

GTG

DD, DYS

 {2108, 1 case}
RC/W-
15-
p1?1q2?6/
2-1

male/
prenatal

AF
CH

dn

 46,XY,r(15)(p1?1q2?6)

dynamic mosaicism:

AF: 46,XY,r(15)[20]/45,XY,-15[10]
Ch: 46,XY,rob(15;15)(q10;q10),+15[18]/47,XY,+15[2]

GTG

DD, DYS
TOP

 {1668 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p1?1q2?6/
2-2

n.a./
prenatal

AF
CH

dn

 46,XN,r(15)(p1?1q2?6)
46,XN,rob(15;15)(q10;q10),+15[12]/46,XN,r(15)[6]/46,XN[2]

GTG

DD, DYS
TOP

 {1717, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p13q23.3/
1-1
 		female/
prenatal 		fibros
 		?dn

46,XX,r(15)(p13q23.3)

dynamic mosaicism:
46,XX,r(15)[93]/45,XX,-15[5]
subtel 15qter absent
 		GTG
 spontaneous abortion
 {1692 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p13q25.3/
1-1
 		female/
prenatal 		AF
 		dn

46,XX,r(15)(p13q25.3)

subtel 15qter absent
aCGH: 15.7 Mb deletion in 15qter
 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS; TOP {1701 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p13q26/
1-1
 		male/
prenatal 		AF
 		?dn

46,XY,r(15)(p13q26)

subtel 15qter absent
 		GTG
FISH
 DD, microcephaly, growth retardation, DYS; TOP {499}
RC/W-
15-
p13q26/
1-2
 		female/
prenatal 		AF
 		?dn

46,XX,r(15)(p13q26)

dynamic mosaicism:

46,XX,r(15)[111]/45,XX,-15[7]

aCGH: deletion ~5.5Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS; TOP {509}
RC/W-
15-
p13q26/
1-3

female/
newborn

PBL

?dn

46,XX,r(15)(p13q26)

dynamic mosaicism:

46,XX,r(15)[47]/45,XX,-15[3]

GTG

DD, hypotonia, DYS

{1208}
RC/W-
15-
p13q26.2/
1-1
 		female/
4y 		PBL
dn

46,XX,r(15)(p13q26.2)

aCGH: terminal deletion 3.6Mb

GTG

aCGH		 DD, microcephaly, growth retardation, DYS, dispigmentation {517}
RC/W-
15-
p13q26.2/
1-2
 		female/
~0.5y 		PBL
?dn
 		46,XX,r(15)(p13q26.2)
aCGH: terminal deletion in 15qter

GTG
aCGH

 DD, microcephaly, growth retardation, DYS {1719, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p13q26.2/
1-2
 		female/
1y 		PBL
dn

46,XX,r(15)(p13q26.2)

aCGH: terminal deletion  - no details provided

GTG

aCGH		 DD, microcephaly, growth retardation, DYS, dispigmentation {519}
RC/W-
15-
p13q26.2/
1-2
 		male/
21y 		PBL
?dn

46,XY,r(15)(p13q26.2)

dynamic mosaicism:

46,XY,r(15)[112]/46,XY,dr(15)[1]/
47,XY,r(15)x2[1]

GTG

 DD, microcephaly, growth retardation, DYS, dispigmentation; at 15y obesity {1694 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p13q26.2~26.3/
1-1
 		female/
~1y 		PBL
dn

46,XX,r(15)(p13q26.2~26.3)

aCGH: terminal deletion in mosaic of 3 and 6Mb

GTG

aCGH		 DD, microcephaly, growth retardation, DYS, dispigmentation {518}
RC/W-
15-
p13q26.3/
1-1
 		female/
~9y 		PBL
?dn
 		46,XX,r(15)(p13q26.3)

dynamic mosaicism

46,XX,r(15)[91]/47,XX,r(15)x2[2]/46,XX,dic(15)[2]/45,XX,-15[5]

GTG

 DD, microcephaly, growth retardation, DYS, dispigmentation {75, case 5}
RC/W-
15-
p13q26.3/
1-2
 		female/
stillborn 		PBL
dn
 		46,XX,r(15)(p13q26.3)

GTG

 n.a. {1298, case RC15-1}
RC/W-
15-
p13q26.3/
1-3
 		female/
~0.5y 		PBL
?dn
 		46,XX,r(15)(p13q26.3)
aCGH: terminal deletion in 15qter

GTG
aCGH

 DD, microcephaly, growth retardation, DYS {1720, case 7 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p12q22~23/
1-1
 		female/
6.5y 		PBL
?dn

46,XX,r(15)(p12q22~23)

dynamic mosaicism 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {467, case 2}
RC/W-
15-
p12q24~25/
1-1
 		female/
6y 		PBL
?dn

46,XX,r(15)(p12q24~25)

 GTG DD, microcephaly, growth retardation, DYS {484, case 1;534}
RC/W-
15-
p12q25/
1-1
 		n.a./
0.25y 		PBL
?dn

46,XN,r(15)(p12q25)

dynamic mosaicism
 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {467, case 1}
RC/W-
15-
p12q25/
1-2
 		female/
9.5y 		PBL
?dn

46,XX,r(15)(p12q25)

 GTG DD, microcephaly, growth retardation, DYS {484, case 2; 534}
RC/W-
15-
p12q26/
1-1
 		female/
11y 		PBL ?dn

46,XX,r(15)(p12q26)

dynamic mosaicism:
46,XX,r(15)/47,XX,r(15)x2/
45,XX,-15
acc. to FISH loss proximal from 99Mb in 15qter
 		GTG
FISH
 DD, microcephaly, growth retardation, retinal pigmentation, dispigmentation {493}
RC/W-
15-
p12q26/
1-2
 		female/
~1.5y 		PBL, fibros ?dn

46,XX,r(15)(p12q26)

dynamic mosaicism

46,XX,r(15)[91]/47,XX,r(15)x2[2]/ 46,XX,dic(15)[2]/45,XX,-15[5]
 		GTG DD, microcephaly, growth retardation, retinal pigmentation {472}
RC/W-
15-
p12q26.2/
1-1
 		female/
~0.5y 		PBL ?dn

46,XX,r(15)(p12q26.2)
aCGH: deletion ~5.2Mb

GTG
aCGH
 DD,  DYS {2080, case 2 in Tab. 2S - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p12q26.3/
1-1
 		female/
~0.5y 		PBL ?dn

46,XX,r(15)(p12q26.3)

GTG DD, microcephaly, growth retardation, DYS, dispigmentation {506, case 2}
RC/W-
15-
p12q26.3/
1-2
 		male/
8y 		PBL dn

46,X,r(15)(p12q26.3)

aCGH: deletion ~0.6Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS, dispigmentation {507}
RC/W-
15-
p12q26.3/
1-3
 		female/
~9y 		PBL ?dn

46,XX,r(15)(p12q26.3)

dynamic mosaicism with 45,XX,-15 and 46,XX,var(15) in ~5% of cells

aCGH: deletion ~5.5Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS, dispigmentation {508; 78, case 9}
RC/W-
15-
p12q26.3/
1-4
 		female/
postnatal
 		PBL ?dn

46,XX,r(15)(p12q26.3)

IGFR1 gene deleted 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1669, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p12q26.3/
2-1
 		male/
n.a. 		PBL ?dn

46,XX,r(15)(p12q26.3)

dynamic mosaicism:
46,XY,r(15)[7]/46,XY[3]

aCGH:
0.5 Mb duplication at 15q11;
2.7 Mb deletion at 15q15;
0.2 Mb deletion at 15q21;
3.9 Mb deletion at 15qte 		GTG
aCGH
OGM
 DD, microcephaly,  micrognathia, growth retardation, DYS {626; case NA21885; 627}
RC/W-
15-
p11.2q25/
1-1
 		female/
38y 		PBL
?dn
 		46,XX,r(15)(p11.2q25) GTG
 DD, microcephaly, growth retardation, DYS {1672 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.2q26/
1-1
 		female/
3y 		PBL
?dn
 		46,XX,r(15)(p11.2q26) GTG
 DD, microcephaly, growth retardation, DYS, dispigmentation {506, case 1}
RC/W-
15-
p11.2q26/
1-2
 		female/
postnatal 		PBL
?dn
 		46,XX,r(15)(p11.2q26) GTG
 DD, microcephaly, growth retardation, DYS, dispigmentation {1697 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.2q26.2/
1-1
 		male/
~5y 		PBL
?dn
 		46,XY,r(15)(p11.2q26.2)
dynamic mosaicism:
46,XX,r(15)/47,XX,r(15)x2/
45,XX,-15
acc. to FISH loss proximal from 99Mb in 15qter 		GTG
FISH
 DD, microcephaly, growth retardation, DYS, dispigmentation {494}
RC/W-
15-
p11.2q26.2/
1-2
 		male/
5y 		PBL
?dn

46,XY,r(15)(p11.2q26.2)

46,XY,r(15)[17]/46,XY,dr(15)[3]

aCGH: terminal deletion ~4.5Mb

GTG

FISH

aCGH 		DD, microcephaly, growth retardation, DYS, dispigmentation {523}
RC/W-
15-
p11.2q26.3/
1-1
 		female/
postnatal 		PBL
?dn

46,XX,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XX,r(15)[80]/45,XY,-15[9]

aCGH: terminal deletion ~4.9Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 3}
RC/W-
15-
p11.2q26.3/
1-2 		male/
postnatal 		PBL
?dn

46,XY,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XY,r(15)[91]/45,XX,-15[18]/47,XX,r(15)x2[2]

aCGH: terminal deletion ~4.8Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 4}
RC/W-
15-
p11.2q26.3/
1-3 		male/
postnatal 		PBL
?dn

46,XY,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XY,r(15)[86]/45,XY,-15[10]/47,XY,r(15)x2[4]

aCGH: terminal deletion ~4.9Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 5}
RC/W-
15-
p11.2q26.3/
1-4 		female/
17y 		PBL
dn

46,XX,r(15)(p11.2q26.3)

dynamic mosaicism:

46,XX,r(15)[92]/45,XX,-15[9]/

46,XX,dr(15)[4]

aCGH: terminal deletion ~3.4Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {524}
RC/W-
15-
p11.2q26.3/
1-5 		female/
postnatal 		PBL
?dn

46,XX,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XX,r(15)[88]/45,XX,-15[8]/47,XX,r(15)x2[4]

aCGH: terminal deletion ~2.1Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 1}
RC/W-
15-
p11.2q26.3/
1-6 		male/
postnatal 		PBL
?dn

46,XY,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XY,r(15)[80]/45,XY,-15[15]/ 47,XXr(15)x2[5]

aCGH: terminal deletion ~1.61Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 2}
RC/W-
15-
p11.2q26.3/
1-7 		male/
postnatal 		PBL
?dn

46,XY,r(15)(p11.2q26.3)

dynamic mosaicism:
46,XY,r(15)[80]/45,XY,-15[3]

aCGH: terminal deletion ~3.8Mb

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {540, case 6}
RC/W-
15-
p11.2q26.3/
1-8 		female/
~0.2y 		PBL
dn

46,XX,r(15)(p11.2q26.3)

GTG

 heart disease, DYS {624, case 10}
RC/W-
15-
p11.2q26.3/
1-9 		female/
~1.5y 		PBL
dn

46,XX,r(15)(p11.2q26.3)
IGFR1 gene deleted

GTG
MolGen

 DD, microcephaly, micrognathia, growth retardation, DYS, heart defect {1678 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.2q26.3/
1-10 		male/
12y 		PBL
dn

46,XX,r(15)(p11.2q26.3)
aCGH: +1.6Mb loss in 15qter

GTG
aCGH

 DD, microcephaly, micrognathia, growth retardation, DYS, dipigmentation {1850 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.2q26.3/
2-1 		female/
2y 		PBL
fibros
 dn

47,XX,r(15)(p11.2q26.3),
+del(15)(q11.2)[82]/
46,XX,r(15)[18]
in fibros mar in all cells
aCGH: terminal deletion ~1Mb

GTG
aCGH

 DD, microcephaly, , growth retardation, DYS, dispigmentation {1706 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.2q26.3/
1-10 		female/
postnatal 		PBL
dn

46,XX,r(15)(p11.2q26.3)

dynamic mosaicism:
 46,XX,r(15)[88]/45,XX,-15[8]/ 47,XX,r(15)x2[4]

FISH: subtel 15q lost
aCGH: no CNV

GTG
FISH

aCGH 		DD, microcephaly, growth retardation, DYS, dispigmentation {1545, case MS-179  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.1q26/
1-1
 		male/
~1y 		PBL
 		?dn

46,XY,r(15)(p11.1->q11.2::q11.2->q26)

FISH: duplication of SNRPN region

GTG

FISH

 DD, microcephaly, growth retardation, DYS; seizures {1685 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.1q26.1/
1-1
 		female/
prenatal 		AF
 		dn

46,XX,r(15)(p11.1q26.1)

aCGH: deletion ~12Mb

GTG

FISH

aCGH		 DD, microcephaly, growth retardation, DYS, TOP {504}
RC/W-
15-
p11.1q26.1/
1-2
 		female/
8y 		PBL
 		dn

46,XX,r(15)(p11.1q26.1)

aCGH: terminal deletion 5.3Mb

GTG

aCGH		 DD, microcephaly, growth retardation, DYS,  dispigmentation {527; 1688}
RC/W-
15-
p11.1q26.2/
1-1
 		female/
11.5y 		PBL
dn

46,XX,r(15)(p11.1q26.2)

aCGH: terminal deletion 4.5Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS,  dispigmentation {525}
RC/W-
15-
p11.1q26.2/
 1-2
 		female/
newborn

AF

PBL
fibros

 dn

46,XX,r(15)(p11.2q26.2)

dynamic mosaicism:

46,XX,r(15)[32]/45,XX,-15[13]/ 47,XX,r(15)x2[3]/46,XX,dic r(15)[1]/46,XX[2]

subtel 15qter absent
aCGH: deletion max 11Mb

GTG

FISH

aCGH 		DD, microcephaly, growth retardation, DYS, dispigmentation {503, case 1}
RC/W-
15-
p11.1q26.2/
 1-3
 		female/
prenatal

AF

 dn

46,XX,r(15)(p11.2q26.2)

aCGH: deletion 6.9Mb in 15qter

GTG

aCGH 		DD, growth retardation, TOP {1720, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.1q26.3/
 1-1
 		female/
newborn 		PBL
?dn

46,XX,r(15)(p11.1q26.3)

subtel 15qter absent

aCGH: deletion max 3Mb 		GTG
FISH
aCGH
 DD, microcephaly, growth retardation, DYS {503, case 2}
RC/W-
15-
p11.1q26.3/
 1-2
 		female/
~8.5y 		PBL
?dn

46,XX,r(15)(p11.1q26.3)

dynamic mosaicism:
46,XX,r(15)[45]/46,XX,dr(15)[2]
subtel 15qter absent

 GTG
FISH
 DD, microcephaly, growth retardation, DYS {1704 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11.1q26.3/
 1-3
 		female/
prenatal 		AF
 		dn

46,XX,r(15)(p11.1q26.3)

dynamic mosaicism:
46,XX,r(15)[21]/45,XX,-15[9]

aCGH: deletion ~0.5Mb 		GTG
FISH
aCGH
 DD, microcephaly, growth retardation, DYS, TOP {505}
RC/W-
15-
p11.1q26.3/
 1-4
 		female/
~4y 		PBL
 		?dn

46,XX,r(15)(p11.1q26.3)

dynamic mosaicism: 46,XX,r(15)[41]/
45, XX,-15[8]/46,XX,dr(15)[8]
subtel 15qter absent

 GTG
FISH
 DD, microcephaly, growth retardation, DYS {1679 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q22~23/
1-1
 		female/
14y 		PBL
?dn
 		46,XX,r(15)(p11q22~23)
dynamic mosaicism:
46,XX,r(15)[56]/45,XX,-15[4]
r-size variable 		GTG DD, microcephaly, growth retardation, DYS {484, case 3; 534}
RC/W-
15-
p11q25/
1-1
 		female/
6.5y 		PBL
?dn
 		46,XX,r(15)(p11q25) GTG DD, microcephaly, growth retardation, DYS, dispigmentation {471}
RC/W-
15-
p11q25.1/
1-1
 		male/
stillborn 		PBL
dn
 		46,XY,r(15)(p11q25.1)
dynamic mosaicism: changes in ring size
aCGH: 22.3 Mb loss in 15qter
 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS, renal and limb abnormalities {486;
1684 -patient 5}
RC/W-
15-
p11q25.1/
1-2
 		male/
n.a. 		PBL
dn
 		46,XY,r(15)(p11q25.1)
aCGH: 22.3 Mb loss in 15qter
 		GTG
aCGH
 DD, growth retardation, DYS, cardiac abnorm. {1684, patient 3; - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q25.2/
1-1
 		n.a./
prenatal

AF

?dn

 46,XN,r(15)(p11q25.2)

GTG
aCGH

DYS, TOP

 {1320, case 6 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q25.2/
1-2
 		male/
n.a. 		PBL
dn
 		46,XY,r(15)(p11q25.2)
aCGH: 19.9 Mb loss in 15qter		 GTG DD, growth retardation, DYS, renal and limb abnormalities
{1684, patient 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q25.3/
1-1
 		n.a./
prenatal

AF

?dn

 46,XN,r(15)(p11q25.3)
aCGH: 16.3 Mb loss in 15qter

GTG
aCGH

DD, growth retardation, DYS

 {1684, patient 8 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26/
1-1
 		female/
5y 		PBL
?dn
 		46,XX,r(15)(p11q26)
dynamic mosaicism: 2/100 cells with 47,XX,r(15)x2 		GTG DD, microcephaly, growth retardation, DYS, dispigmentation {464}
RC/W-
15-
p11q26/
1-2
 		female/
~0.25y 		PBL
?dn
 		46,XX,r(15)(p11q26) GTG DD, microcephaly, growth retardation, DYS, dispigmentation {490}
RC/W-
15-
p11q26/
1-3
 		male/
3.5y 		PBL
?dn
 		46,XY,r(15)(p11q26)

dynamic mosaicism

46,XY,r(15)[19]/45,XY,-15[3] 		GTG DD, microcephaly, growth retardation, DYS {485, case 1; 564; 1675}
RC/W-
15-
p11q26/
1-4
 		female/
6y 		PBL
?dn
 		46,XX,r(15)(p11q26)
dynamic mosaicism 		GTG DD, microcephaly, growth retardation, DYS {485, case 2; 564; 1675}
RC/W-
15-
p11q26.2/
1-1
 		male/
~5y 		PBL
?dn
 		46,XX,r(15)(p11q26.2) GTG DD, microcephaly, growth retardation, DYS {479; 1675}
RC/W-
15-
p11q26.2/
1-2
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.2) GTG
ISH
 DD, microcephaly, growth retardation, DYS {495, 1 case}
literature not accessible
RC/W-
15-
p11q26.2/
1-3
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.2) GTG
ISH
 DD, microcephaly, growth retardation, DYS {495, 1 case}
literature not accessible
RC/W-
15-
p11q26.2/
1-4
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.2) GTG
ISH
 DD, microcephaly, growth retardation, DYS {495, 1 case}
literature not accessible
RC/W-
15-
p11q26.2/
1-5
 		male/
14y 		PBL
?dn
 		46,XY,r(15)(p11q26.2)
dynamic mosaicism 		GTG
Southern blot 		DD, microcephaly, growth retardation, DYS {497, case 1}
RC/W-
15-
p11q26.2/
1-6
 		male/
10y 		PBL
?dn
 		46,XY,r(15)(p11q26.2)
 		GTG
Southern blot 		DD, microcephaly, growth retardation, DYS, dispigmentation {497, case 2}
RC/W-
15-
p11q26.2/
1-7
 		male/
8y 		PBL
?dn
 		46,XY,r(15)(p11q26.2)
dynamic mosaicism 		GTG
Southern blot 		DD, microcephaly, growth retardation, DYS, dispigmentation {497, case 3}
RC/W-
15-
p11q26.2/
1-8
 		female/
3y 		PBL
?dn
 		46,XX,r(15)(p11q26.2)
 		GTG
Southern blot 		DD, microcephaly, growth retardation, DYS, dispigmentation {497, case 4}
RC/W-
15-
p11q26.2/
1-9
 		female/
newborn 		PBL
?dn
 		46,XX,r(15)(p11q26.2)
 		GTG
Southern blot 		DD, microcephaly, growth retardation, DYS  {498}
RC/W-
15-
p11q26.2/
1-10
 		male/
stillborn 		PBL
?dn
 		46,XY,r(15)(p11q26.2)
acc. to FISH loss of ~6.4Mb 		GTG
FISH 		DD, microcephaly, growth retardation, DYS {502, case 1; 1682}
RC/W-
15-
p11q26.2/
1-11
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.2)
aCGH- results not detailed 		GTG
aCGH 		DD, microcephaly, growth retardation, DYS {531, case 1; 1689, case 1}
RC/W-
15-
p11q26.2/
1-12
 		female/
~6y 		PBL
dn
 		46,XX,r(15)(p11q26.2)
dynamic mosaicism:
46,XX,r(15)[94]/47,XX,r(15)x2[5]/ 46,XX[1]
aCGH- results not detailed 		GTG
aCGH 		DD, microcephaly, growth retardation, DYS {1693, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.2/
1-13
 		female/
prenatal 		AF
?dn
 		46,XX,r(15)(p11q26.2)
dynamic mosaicism:
46,XX,r(15)[64]/47,XX,r(15)x2[32]/ 46,XX[12]
aCGH- ~4Mb lost at 15qter 		GTG
aCGH 		n.a.
{2005, case 20 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.2/
1-14
 		n.a./
postnatal 		PBL
 		?dn
 		46,XX,r(15)(p11q26.2)
no details available 		GTG
aCGH 		n.a.
{2118, 1 case}
RC/W-
15-
p11q26.2/
2-1
 		female/
14y 		PBL
 		?dn
 		46,XX,r(15)(p11->q11.2::q11.2->
q26.2::q25.3->q26.2)
aCGH - losses not detailed 		GTG
aCGH 		DD, hypotonia
{2084 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.2/
3-1
 		male/
26y 		PBL
?dn

46,XN,r(15)r(15)(p11->q26.2::q26.1->q26.2)

aCGH: terminal deletion 4.8Mb and duplication in 15q26.2 of 6.7Mb 		GTG
aCGH
 		DD, growth retardation, DYS {1703 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-1
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.3) GTG
ISH
 DD, microcephaly, growth retardation, DYS {495, 1 case}
literature not accessible
RC/W-
15-
p11q26.3/
1-2
 		male/
~1y 		PBL
?dn
 		46,XY,r(15)(p11q26.3)
acc. to FISH loss of ~5Mb 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {502, case 2}
RC/W-
15-
p11q26.3/
1-3
 		male/
newborn 		PBL
?dn
 		46,XY,r(15)(p11q26.3)
acc. to FISH loss of ~4.5Mb 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {502, case 3}
RC/W-
15-
p11q26.3/
1-4
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(15)(p11q26.3)
aCGH- results not detailed 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {531, case 2; 1689, case 2}
RC/W-
15-
p11q26.3/
1-5
 		female/
~1y 		PBL
dn
 		46,XX,r(15)(p11q26.3) GTG
 DD, growth retardation {624, case 6}
RC/W-
15-
p11q26.3/
1-6
 		female/
prenatal 		AF
?dn
 		46,XX,r(15)(p11q26.3)
dynamic mosaicism:
46,XX,r(15)[88]/45,XX,-15[11]/ 46,XX,dr(15)[1]
aCGH- no CNV detected 		GTG
aCGH
 no sonographic abormalities {895}
RC/W-
15-
p11q26.3/
1-7
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 1.6Mb 		GTG
FISH
aCGH
 no details provided {1099, case 20}
RC/W-
15-
p11q26.3/
1-8
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 2.1Mb 		GTG
FISH
aCGH
 no details provided {1099, case 19}
RC/W-
15-
p11q26.3/
1-9
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 2.2Mb 		GTG
FISH
aCGH
 no details provided {1099, case 18}
RC/W-
15-
p11q26.3/
1-10
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 2.3Mb 		GTG
FISH
aCGH
 no details provided {1099, case 12}
RC/W-
15-
p11q26.3/
1-11
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 1308Mb 		GTG
FISH
aCGH
 no details provided {1099, case 17}
RC/W-
15-
p11q26.3/
1-12
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 4.8Mb 		GTG
FISH
aCGH
 no details provided {1099, case 14}
RC/W-
15-
p11q26.3/
1-13
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 4.6Mb 		GTG
FISH
aCGH
 no details provided {1099, case 15}
RC/W-
15-
p11q26.3/
1-14
 		n.a./
postnatal 		PBL
dn
 		46,XN,r(15)(p11q26.3)
aCGH: terminal deletion 4.9Mb 		GTG
FISH
aCGH
 no details provided {1099, case 16}
RC/W-
15-
p11q26.3/
1-15
 		female/
postnatal
 		PBL ?dn

46,XX,r(15)(p11q26.3)

IGFR1 gene deleted 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1669, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-16
 		female/
21y 		PBL
?dn
 		46,XX,r(15)(p11q26.3)
 terminal deletion acc. to FISH 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1673, case 5 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-17
 		female/
1.5y 		PBL
?dn
 		46,XX,r(15)(p11q26.3)
dynamic mosaicism:
r(15) in 95% of cells
terminal deletion acc. to FISH 		GTG
FISH
 DD, microcephaly, growth retardation, DYS; heart defect and renal problems {1674, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-18
 		n.a./
newborn 		PBL
?dn
 		46,XN,r(15)(p11q26.3)
dynamic mosaicism:
46,XN,r(15)[92]/46,XN[8]
terminal deletion acc. to FISH 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1676 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-19
 		female/
2y 		PBL
?dn
 		46,XX,r(15)(p11q26.3)
dynamic mosaicism:
46,XX,r(15)[64]/46,XX,dr(15)[16]/ 47,XX,r(15)x2[5]/46,XX[9]/45,XX,-15[6]
terminal deletion acc. to FISH 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1702; 1705 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-20
 		male/
~1.5y 		PBL
?dn
 		46,XY,r(15)(p11q26.3)
acc. to aCGH loss of ~3.7Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {1707 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-21 to 1-22
 		male and female/
postnatal 		PBL
?dn
 		46,XX or XY,r(15)(p11q26.3)
terminal deletion acc. to FISH 		GTG
FISH
 DD, microcephaly, growth retardation, DYS {1710, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-23
 		male/
prenatal 		AF
?dn
 		46,XY,r(15)(p11q26.3)
acc. to aCGH loss of ~3.8Mb 		GTG
aCGH
 IUGR, TOP {1713, case 12 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-24
 		female/
~4y
 		PBL dn

46,XX,r(15)(p11q26.3)

dynamic mosaicism:
46,XX,r(15)[83]/46,XX[17]
acc. to aCGH loss of ~3.5Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {1716 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
1-25
 		female/
~0.5y 		PBL
?dn
 		46,XX,r(15)(p11q26.3)
terminal deletion acc. to aCGH 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {1720, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
15-
p11q26.3/
2-1
 		male/
~0.25y 		PBL
?dn

46,XY,r(15)(p11->q26.3::q26.3->q26.3)

aCGH: terminal deletion 2.8Mb and duplication in 15q26.3 of ~0.5Mb 		GTG
aCGH
 DD, microcephaly, growth retardation, DYS {515}
RC/W-
15-
p11q26.3/
2-2
 		female/
6y 		PBL
?dn

46,XN,r(15)r(15)(p11->q26.3::q26.3->q26.1)

aCGH: terminal deletion 5Mb and duplication in 15q26.3 of 2Mb 		GTG
FISH
aCGH
 		DD, microcephaly, growth retardation, DYS, dispigmentation {516, case 3; 1099, case 13}