ChromosOmics - Database





                                                  - CHROMOSOME  14 -                                                

Cases without
clinical findings
Cases with
clinical findings

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

 - DD = developmental delay (including intellectual disability) -
           late onset possible
- growth retardation - possibly more severe if IGH locus in 14q32.33 is lost
          (hg19: 106,173,506-106,175,001
- microcephaly
- DYS = dysmorphic facial features
- retinal / macular pigmentation
- seizures - late onset possible
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots)

- 1 case each with childhood CML and macroadenoma

- theoretically to be expected: 
+ 14q32 microdeletion syndrome in case of terminal deletion (OMIM 618147)

Guideline for management of RC(14) patients see Refs 552, 1661, 1162,  2123
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-
14-
p13q32/
1-1
 		female/
adult 		PBL

?dn

mat transmission to two male children

46,XX,r(14)(p13q32)[65]/ 45,XX,t(14;21)(1?;q?)[35]

dynamic mosaicism for cells with r(14) – ring size varability 		GTG Normal, 2 children with r(14) – more severely affected – no cells with t(14;21) {402}
RC/O-
14-
p13q32.33/
2-1
 		female/
adult 		PBL

dn

mat transmission to three female children

46,XX,r(14)(p13q32.33)

dynamic mosaicism

 cells with 45,XX,-14
Subtel 14qter present
 		GTG
FISH

Epilepsy until age of 2.5y

3 children with r(14) – all female
children in parts more severely affected 		{382; 430, case BB0111}

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-
14-
p1?3q24.3/
1-1
 		female/
prenatal
 		AF
 		?dn
 		46,XX,r(14)(p1?3q24.3) GTG

growth retardation, DYS, TOP

 {541, case 10}
RC/W-
14-
p1?1q3?2/
1-1
 		female/
child 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG
 		Ataxia telangiectasia and DD, microcephaly, growth retardation, DYS, retinal pigmentation {375, case O}
RC/W-
14-
p1?1q3?2/
1-2
 		female/
child 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS

 {376}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-3 and 1-3b
 		n.a./
children
monozyg. twins
 PBL
?dn
 		46,XN,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {377; 415}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-4
 		female/
~1y
 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS, seizures, macular pigmentation

 {378}
RC/W-
14-
p1?1q3?2/
1-5
 		female/
~2y
 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {397}
RC/W-
14-
p1?1q3?2/
1-6
 		female/
newborn 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS, dispigmentation

 {419}
RC/W-
14-
p1?1q3?2/
1-7
 		female/
newborn
 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, growth retardation, DYS, seizures, dispigmentation, retinal pigmentation

 {420}
RC/W-
14-
p1?1q3?2/
1-8
 		n.a./
n.a. 		PBL
?dn
 		46,XN,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {418}
RC/W-
14-
p1?1q3?2/
1-9
 		male/
child
 		PBL
?dn
 		46,XY,r(14)(p1?1q3?2)
 		GTG

DD, microcephaly, growth retardation, DYS

 {381}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-10
 		male/
1y
 		PBL, fibros
dn
 		46,XY,r(14)(p1?1q3?2)
dynamic mosaicism:
46,XY,r(14)/46,XX/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {383}
RC/W-
14-
p1?1q3?2/
1-11
 		male/
child
 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2)
 GTG

DD, microcephaly, growth retardation, DYS, macula pigmentation

 {386}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-12
 		male/
2m
 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {388}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-13
 		male/
2m
 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {389, case 1}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-14
 		female/
10y 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2)
no detailed data available 		GTG

DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation

 {443}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-15
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {389, case 3}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-16
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2)
dynamic mosaicism 		GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal and macula pigmentation

 {390}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-17
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {421}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-18
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {393, case 1}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-19
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {393, case 2}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-20
 		n.a./
n.a. 		PBL
 		?dn

46,XN,del(5)(p?p?),

r(14)(p1?1q3?2) 		GTG

Cri du Chat syndrome,

DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation

{394}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-21
 		male/
5.5y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {395; 1616 - provided by Dr. I. Lurie, Maryland, USA} literature not accessible
RC/W-
14-
p1?1q3?2/
1-22
 		male/
newborn 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {400}
RC/W-
14-
p1?1q3?2/
1-23
 		n.a./
n.a.		 PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {405, case 1}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-24
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {405, case 2}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-25
 		n.a./
n.a. 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {406, case 1}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-26
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD,  seizures

 {408, case 1}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-27
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD,  seizures

 {408, case 2}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-28
 		female/
5y 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {409}
RC/W-
14-
p1?1q3?2/
1-29
 		female/
prenatal 		AF
 		?dn
 		46,XX,r(14)(p1?1q3?2)
dynamic mosaicism:
46,XX,r(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, TOP

 {411}
RC/W-
14-
p1?1q3?2/
1-30
 		male/
1.5y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {412, case S.T.}
RC/W-
14-
p1?1q3?2/
1-31
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS

 {413}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-32
 		female/
29y 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {416}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-33
 		n.a./
child
 		PBL
?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS

 {428}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-34
 		female/
~0.3y 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS

 {436, case 4}
RC/W-
14-
p1?1q3?2/
1-35
 		male/
7y 		PBL
?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {449}
RC/W-
14-
p1?1q3?2/
1-36
 		female/
0.5y 		PBL
?dn
 		46,XX,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {450}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-37
 		female/
n.a. 		PBL
 		?dn
 		47,XXX,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {457}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-38 to 1-50
 		6 female and 7 male/
5 to 49y
 		PBL
?dn
 		46,XN,r(14)(p1?1q3?2)
no detailed data available 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {447}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-51 to 1-57
 		female and male/
postnatal
 		PBL
?dn
 		46,XN,r(14)(p1?1q3?2)
no detailed data available 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {538}
6 patients not included in 438 before
RC/W-
14-
p1?1q3?2/
1-58
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS

 {578}
no details provided in paper
RC/W-
14-
p1?1q3?2/
1-59
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

DD, microcephaly, growth retardation, DYS

 {585}
literature not accessible
RC/W-
14-
p1?1q3?2/
1-60
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

seizures

 {843, 1 case}
RC/W-
14-
p1?1q3?2/
1-61
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

found during newborn screening

 {1474 - no case number - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-62
 		male/
~1y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, DYS, seizures, bilat. pseudoretinitis pigmentosa

 {1615 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-63
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

n.a.

 {1616 - 'one add. case' - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-64
 		male/
7y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

DD, seizures, obesity, DYS; at 8y hypophyseal macroadenoma

 {1618 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-65
 		female/
~0.8y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
dynamic mosaicism:
46,XX,r(14)/45,XX,-14 		GTG

DD, seizures, microcephaly, growth retardation

 {1619 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-66 to 1-70
 		2 females, 3 males/
2.5y - 15y
 		PBL
 		?dn
 		46,XX or XY,r(14)(p1?1q3?2)
 		GTG

seizures

 {1620, 5 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-71
 		male/
3y
 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2)
 		GTG

DD, seizures, growth retardation, hypotonia, DYS

 {1622 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-72
 		male/
2y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2) GTG

 seizures

 {1623 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-73
 		female/
~2.7y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, seizures, DYS

 {1632 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-74
 		male/
15y
 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2)
 		GTG

DD, seizures, growth retardation, DYS

 {1633 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-75
 		male/
prenatal 		AF
 		?dn
 		46,XY,r(14)(p1?1q3?2)
dynamic mosaicism:
46,XY,r(14)/45,XY,-14 		GTG

DYS, TOP

 {1637 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-76
 		male/
prenatal 		AF
 		?dn
 		46,XY,r(14)(p1?1q3?2)
 		GTG

heart defect

 {1642, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-77
 		female/
~1y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, seizures, microcephaly

 {1643 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-78
 		female/
postnatal
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

seizures

 {1644 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-79
 		female/
3y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, seizures, microcephaly, hypothyroidy; (in abstract reported as male)

 {1648 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-80
 		male/
8y
 		PBL
 		dn
 		46,XY,r(14)(p1?1q3?2)
loss of subtel 14qter 		GTG
FISH

DD, seizures, growth retardation, microcephaly, DYS, hypotonia, early macular degeneration

 {1653 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-81
 		male/
prenatal 		AF
 		?dn
 		46,XY,r(14)(p1?1q3?2)
 		GTG

DYS, TOP

 {1654, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-82
 		male/
17y 		PBL
 		dn
 		46,XY,r(14)(p1?1q3?2) GTG

 seizures

 {1655 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-83
 		female/
~4y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

seizures

 {1656, case 8 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-84
 		female/
4y
 		PBL
 		?dn
 		46,XX,r(14)(p1?1q3?2)
 		GTG

DD, seizures

 {1657 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-85 to 1-86
 		n.a./
postnatal 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG

n.a.

 {1664, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
1-87 to 1-96
 		n.a./
postnatal 		PBL
 		?dn
 		46,XN,r(14)(p1?1q3?2) GTG
NGS

n.a.

 {2088, 10 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p1?1q3?2/
2-1
 		male/
n.a. 		PBL
 		?dn
 		46,XY,r(14)(p1?1q3?2)
dynamic mosaicism:
46,XY,r(14)/46,XX/ iso psu dic(14) 		GTG

Trisomy 14 syndrome, DD, microcephaly, growth retardation, DYS, seizures

 {391}
literature not accessible
RC/W-
14-
p1?1q32.33/
1-1
 		male/
n.a. 		PBL
 		?dn
 		46,XY,r(14)(p1?1q32.33)
BACs in14qter:
loss of ~1.4Mb
 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures

 {430, 
case CC0066}
RC/W-
14-
p1?1q32.33/
1-2
 		male/
~0.3y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q32.33)
dynamic mosaicism:
46,XY,r(14)[86]/45,XY,-14[14]
Subtel 14q absent
 		GTG
FISH

Seizures, DD

 {436, 
case 2}
RC/W-
14-
p1?1q32.33/
1-3
 		male/
~0.5y 		PBL
 		?dn
 		46,XY,r(14)(p1?1q32.33)
Subtel 14q present
 		GTG
FISH

Seizures, DD, microcephaly, DYS

 {436, 
case 3}
RC/W-
14-
p13q32/
1-1
 		male/
newborn
 		PBL
dn
 		46,XY,r(14)(p13q32) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {396}
RC/W-
14-
p13q32/
1-2
 		female/
~1.25y
 		PBL
dn
 		46,XX,r(14)(p13q32)
dynamic mosaicism:
 46,XX,r(14)/46,XX,dr(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {385, case 1}
RC/W-
14-
p13q32/
1-3
 		female/
~0.3y
 		PBL
?dn
 		46,XX,r(14)(p13q32)
Subtel 14q absent 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {436, case 1}
RC/W-
14-
p13q32/
1-4
 		male/
0.5y
 		PBL
?dn
 		46,XY,r(14)(p13q32)

dynamic mosaicism:

 46,XY,r(14)[~93%]/46,XY,r(14)(var)[~2%]/45,XY,-14[~5%]

 GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation

 {75, case 3}
RC/W-
14-
p13q32/
1-5
 		female/
stillborn
 		PBL
dn
 		46,XX,r(14)(p13q32)

dynamic mosaicism:

 46,XX,r(14)[12]/46,XX,[7]

 GTG

n.a.

 {1298, case RC14-2}
RC/W-
14-
p13q32/
1-6
 		male/
~1.25y
 		PBL
?dn
 		46,XY,r(14)(p13q32)
GTG

DD, microcephaly, growth retardation, DYS, seizures

 {1576, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p13q32/
1-7
 		female/
16y
 		PBL
?dn
 		46,XX,r(14)(p13q32)
GTG

 seizures, infections

 {1626, case 1 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p13q32/
2-1
 		male/
36y 		PBL
?dn

46,XY,r(14)(p13q32)[72]/
46,XXr(14;14)(p11.1q32p11.1q32)[18]/45,XY,-14[1]

Subtelomer 14qter present 		GTG
FISH

DD, macrocephaly, growth retardation, DYS, seizures

 {432}
RC/W-
14-
p13q32.3/
1-1
 		female/
~0.25y 		PBL
dn
 		46,XY,r(14)(p13q32.3) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {398}
RC/W-
14-
p13q32.3/
1-2
 		female/
2y 		PBL
?dn
 		46,XX,r(14)(p13q32.3) GTG

DD, seizures

 {407}
RC/W-
14-
p13q32.3/
1-3
 		male/
2y 		PBL
?dn
 		46,XY,r(14)(p13q32.3)
dynamic mosaicism:
 46,XY,r(14)[28]/45,XY,-14[32] 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {451}
literature not accessible
RC/W-
14-
p13q32.3/
1-4
 		female/
4y 		PBL
?dn
 		46,XX,r(14)(p13q32.3)
dynamic mosaicism:
 46,XY,r(14)[28]/45,XY,-14[32] 		GTG

DD, seizures

 {893}
RC/W-
14-
p13q32.3/
1-5
 		male/
~1.1y 		PBL
?dn
 		46,XY,r(14)(p13q32.3)
 		GTG

DD, microganthia, seizures, DYS; CML at 4m

 {1617 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p13q32.33/
1-1
 		male/
3y 		PBL
dn

46,XY,r(14)(p13q32.33)

dynamic mosaicism:

At 22y: 46,XY,r(14)[~87%]/

46,XY,r(14)(var)[~2%]/

45,XY,-14[~11%]

acc. to FISH and aCGH no loss in 14q – only telomeric sequences are lost 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation

 {75, case 2;
440; 456;
 78, case 7; 541, case 9}
RC/W-
14-
p13q32.33/
1-2
 		male/
1y 		PBL
`?dn

46,XY,r(14)(p13q32.33)

dynamic mosaicism:
46,XY,r(14)[~96%]/46,XY,dr(14)[~4%]
acc. to FISH loss of ~0.15Mb at 14ter (possibly also 2 single BAC deletions in 14q22.1 and 14q24.2)

 GTG
BAC-array

DD, microcephaly, growth retardation, DYS, seizures

 {442; 1634; 1635; 1641, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p13q32.33/
1-3
 		male/
prenatal 		AF
 		dn

46,XY,r(14)(p13q32.33)

dynamic mosaicism:
46,XY,r(14)[27]/45,XY,-14[3]
acc. to FISH loss of ~1.2Mb at 14qter

 GTG
FISH

DD, microcephaly, growth retardation, DYS, TOP

 {444}
RC/W-
14-
p13q32.33/
1-4
 		female/
0.7y 		PBL
 		dn

46,XY,r(14)(p13q32.33)

acc. to aCGH loss of ~2.5Mb at 14qter

 GTG
aCGH

seizures

 {1298, case RC14-3}
RC/W-
14-
p13q32.33/
1-5
 		female/
~0.6y 		PBL
 		?dn

46,XX,r(14)(p13q32.33)
dynamic mosaicism:
46,XX,r(14)[154]/46,XX,dr(13)[3]/ 45,XX,-14[3]

acc. to aCGH loss of ~0.8Mb at 14tqer

 GTG
aCGH

seizures

 {1640, case 13 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p13q32.33/
1-6
 		male/
15.5y 		PBL
 		?dn

46,XY,r(14)(p13q32.33)
dynamic mosaicism:
46,XY,r(14)[68]/46,XY,dr(13)[2]/ 45,XY,-14[5]

acc. to aCGH loss of ~0.2Mb at 14qter

 GTG
aCGH

DD, DYS

 {1640, case 14 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p12q24/
1-1
 		female/
~1y
 		PBL
dn

46,XX,r(14)(p12q24)

dynamic mosaicism
(few cells with 45,XX,-14) 		GTG

DD, microcephaly, growth retardation, DYS, seizures, dispigmentation, macular pigmentation

 {380}
RC/W-
14-
p12q21.31/
1-1
 		male/
newborn
 		PBL
?dn

46,XX,r(14)(p12q21.31)

dynamic mosaicism
46,XY,r(14)[26]/45,XY,-14[2]/46,XY,del(14)(q32)[2]
acc. to aCGH loss of 5.26Mb at 14qter 		GTG
CGH

DD, DYS

 {2102, case 6 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p12q32/
1-1
 		male/
5y 		PBL
?dn

46,XY,r(14)(p12q32)

 GTG

DD, microcephaly, growth retardation, DYS

 {561, case 1; 1658, 1659, 1660  - provided by Dr. I. Lurie, Maryland, USA; 2098}
RC/W-
14-
p12q32/
1-2
 		female/
2y 		PBL
?dn

46,XX,r(14)(p12q32)

 GTG

DD, mild growth retardation, DYS, seizures

 {1614 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p12q32/
1-3
 		male/
postnatal 		PBL
?dn

46,XY,r(14)(p12q32)

 GTG

DD, DYS

 {2101 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p12q32/
1-4
 		male/
~1y 		PBL
?dn

46,XY,r(14)(p12q32)

 GTG

DD, DYS

 {2102, case 7 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p12q32.2/
1-1
 		female/
newborn 		PBL
?dn

46,XX,r(14)(p12q32.2)
 dynamic mosaicism:

46,XX,inv dr(14)[20]/
46,XX,r(14)[4]/
46,XX,del(14)(q21)[1]/46,XX[1] 		GTG

DD, DYS,

{541, case 8}
RC/W-
14-
p12q32.3/
1-1
 		female/
~0.3y 		PBL
 		dn

46,XX,r(14)(p12->q32.3:
:q32.2->q32.12)

dynamic mosaicism:
 46,XX,r(14)[95]/46,XX,var r(14)[5]
acc. to aCGH in 14qter loss of ~2Mb and
gain in 14q32.12-q32.33 (~10.5Mb) 		GTG

DD, microcephaly, growth retardation, DYS

 {433}
RC/W-
14-
p12q32.3/
2-1
 		female/
~24y 		PBL
 		?dn

46,XX,r(14)(p12q32.3)

dynamic mosaicism:
 46,XX,r(14)[25]/45,XX,-14[4]
acc. to aCGH in 14qter loss of ~0.5Mb and
gain in 6p24.3 gain (~0.35Mb) 		GTG

DD, microcephaly, DYS, seizures, dispigmentation

 {1298} case RC 14-1
RC/W-
14-
p12q32.31/
1-1
 		male/
1y 		PBL
?dn

46,XY,r(14)(p12q32.31)

dynamic mosaicism with 45,XY,-14
 reported in abstract but
not in main content of paper

 GTG

DD, microcephaly, growth retardation, DYS, seizures

 {426, case 3}
RC/W-
14-
p12q32.31/
1-2
 		female/
~3y 		PBL
?dn

46,XX,r(14)(p12q32.31)

loss of 5Mb at 14qter

 GTG
aCGH

DD, DYS, seizures, dispigmentation

 {454, case FG}
RC/W-
14-
p12q32.33/
1-1
 		male/
17y 		PBL
?dn

46,XY,r(14)(p12q32.33)
 dynamic mosaicism:

46,XY,r(14)/45,XY,−14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {426, case 1}
RC/W-
14-
p12q32.33/
1-2
 		male/
n.a. 		PBL
?dn

46,XY,r(14)(p12q32.33)
acc. to aCGH 2.5Mb loss in 14qter

 GTG
aCGH
OGM

DD, microcephaly, micrognathia, growth retardation, DYS, seizures, scoliosis

 {626, case NA07364; 627}
RC/W-
14-
p12q32.33/
2-1
 		male/
~1.4y 		PBL
dn

46,XY,r(14)(p12->q32.33:
:q32.33->q32.33)
acc. to aCGH loss in 14qter of 0.35Mb and dup of 1.7Mb in 14q32.33

 GTG
aCGH

DD, microcephaly,  DYS, seizures

 {1652 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q31/
1-1
 		female/
12.5y
 		PBL
?dn

46,XX,r(14)(p11q31)

dynamic mosaicism:
46,XX,r(14)/46,XX,dr(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS

 {384}
literature not accessible
RC/W-
14-
p11q31/
2-1
 		female/
15y
 		PBL
?dn

46,XX,r(14)(p11q31)[23]/
46,XX,del(14)(q?31)[17]

 GTG

DD, microcephaly, micrognathia, growth retardation, seizures, DYS

 {1625 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32/
1-1
 		female/
~2y
 		PBL
dn

46,XX,r(14)(p11q32)

dynamic mosaicism:
46,XX,r(14)/46,XX,dr(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {379}
RC/W-
14-
p11q32/
1-2
 		female/
3.5y
 		PBL
dn
 		46,XX,r(14)(p11q32)
dynamic mosaicism:
46,XX,r(14)/46,XX,dr(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {385, case 2}
RC/W-
14-
p11q32/
1-3
 		female/
2.5y
 		PBL
dn
 		46,XX,r(14)(p11q32)
dynamic mosaicism:
46,XX,r(14)/46,XX,dr(14)/45,XX,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {392}
RC/W-
14-
p11q32/
1-4
 		male/
8y 		PBL
dn
 		46,XY,r(14)(p11q32)
dynamic mosaicism:
46,XY,r(14)[93]/45,XY,-14[7] 		GTG

DD, seizures, retinal pigmentation

 {404}
RC/W-
14-
p11q32/
1-5
 		male/
~0.3y 		PBL
?dn
 		46,XY,r(14)(p11q32)
BACs in 14qter:
loss of ~5Mb
 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures

 {430,
 case HSC1412}
RC/W-
14-
p11q32/
1-6
 		male/
9y 		PBL
?dn
 		46,XY,r(14)(p11q32)
dynamic mosaicism:
 46,XY,r(14)[~91%]/
46,XY,r(14)(var)[~5%]/45,XY,-14[~4%]

 		GTG

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation, dispigmentation

 {75, case 4}
RC/W-
14-
p11q32/
1-7
 		male/
5y 		PBL
?dn
 		46,XY,r(14)(p11q32)
dynamic mosaicism:
46,XY,r(14)[27]/
45,XY,-14[3]
 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {446, case 2}
RC/W-
14-
p11q32/
1-8
 		male/
3y 		PBL
dn
 		46,XY,r(14)(p11q32)
 		GTG

DD, heart disease, seizures

 {624, case 4}
RC/W-
14-
p11q32/
1-9

female/
~0.3y

PBL

?dn

 46,XX,r(14)(p11q32)

GTG

DD, DYS, dispigmentation, seizures

 {1206}
RC/W-
14-
p11q32/
1-10

female/
postnatal

PBL

?dn

 46,XX,r(14)(p11q32)
 GTG
FISH
 		DYS, growth retardation {1288, 1 case; 1319, case 4 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32/
1-11

female/
3y

PBL

?dn

 46,XX,r(14)(p11q32)
 GTG
 		DD, DYS, heart defect, seizures {1613 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32/
1-12

female/
3y

PBL

?dn

 46,XX,r(14)(p11q32)
 GTG
 		DD, microcephaly, DYS, seizures, dispigmentation {1621 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32/
1-13

female/
prenatal

AF

dn

 46,XX,r(14)(p11q32)
dynamic mosaicism:
46,XX,r(14)[69]/45,XX,-14[31]
 GTG
 		child born; DD, DYS, 
{1629 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32/
2-1

female/
~2y

PBL

?dn

 46,XX,r(14)(p11q32)[61]/
46,XX,trob(14;14)(q10;q10)[25]/
45,XX,-14[14]
 GTG
FISH
 		DD, DYS, overgrowth, dispigmentation {1636 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.11/
1-1
 		male/
newborn 		PBL
?dn
 		46,XY,r(14)(p11q32.11) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {417, case 10}
RC/W-
14-
p11q32.2/
1-1
 		female/
prenatal 		AF
 		dn
 		46,XX,r(14)(p11q32.2)
dynamic mosaicism:
46,XX,r(14)[7]/45,XX,-14[7]
acc. to FISH ~7Mb loss in 14q 		GTG
FISH

DD, microcephaly, growth retardation, DYS; TOP

 {434}
RC/W-
14-
p11q32.3/
1-1
 		male/
postnatal 		PBL
?dn
 		46,XY,r(14)(p11q32.3) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {1630, 1 case; 1631 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.31/
1-1
 		male/
1y 		PBL
?dn
 		46,XY,r(14)(p11q32.31)
dynamic mosaicism:
45,XX,-14[17%]
loss of 5Mb in 14q 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {438, case 15}
RC/W-
14-
p11q32.31/
1-2
 		female/
newborn
 PBL
?dn
 		46,XX,r(14)(p11q32.31)
dynamic mosaicism:
5% with ? 45,XY,-14
loss of 4.7Mb at 14qter
 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {455}
RC/W-
14-
p11q32.31/
1-3
 		n.a./
n.a. 		PBL
 		?dn
 		46,XN,r(14)(p11q32.31)
loss of ~5Mb in 14qter 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {389, case 2}
literature not accessible,
studied also in
 {430 as case HSC1313}
RC/W-
14-
p11q32.31~32.32/
1-1 to 1-7
 		4 females and 3 males/
1 to 28y
 		PBL
?dn

46,XN,r(14)(p11q32.31~32.32)

dynamic mosaicism – specified in paper

loss of >4Mb at 14qter 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, in 1 case retinal pigmentation

 {445, cases 3, 9, 15, 18 - these also in 453; and 445, cases 31, 33, 37; 1218}
RC/W-
14-
p11q32.32/
1-1
 		n.a./
postnatal
 		PBL
?dn

46,XN,r(14)(p11q32.32)

dynamic mosaicism – not specified

aCGH results not detailed 		GTG
aCGH

n.a.

 {1595, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-1
 		female/
2y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
dynamic mosaicism:
45,XX,-14[21%]
loss of 4.3Mb in 14q 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {438, case 9}
RC/W-
14-
p11q32.33/
1-2
 		female/
5y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
dynamic mosaicism:
45,XX,-14[17%]
loss of 3.8Mb in 14q 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {438, case 18}
RC/W-
14-
p11q32.33/
1-3
 		male/
1y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
loss of 3.2Mb at 14qter
 		GTG
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {458}
RC/W-
14-
p11q32.33/
1-4 to 1-11
 		5 females and 3 males/
1 to 18y 		PBL
?dn
 		46,XN,r(14)(p11q32.33)

dynamic mosaicism – specified in paper

loss of 3Mb at 14qter 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures; in 2 cases retinal pigmentation

 {445, cases 2, 4, 5, 13, 14, 16, 17 - these also in 453; and 445, case 36; 1218}
RC/W-
14-
p11q32.33/
1-12
 		male/
8y 		PBL
dn
 		46,XY,r(14)(p11q32.33)
dynamic mosaicism:
46,XY,r(14)[93]/45,XY,-14[7]
loss of 0.8Mb in 14q 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures

 {403; 410; 422; 423; 430, case HSC1282}
RC/W-
14-
p11q32.33/
1-13 to 1-20
 		3 male, 5 female/
1y to 36y 		PBL
?dn
 		46,XN,r(14)(p11q32.33)
dynamic mosaicism:
45,XN,-14[17-21%]
loss of <0.2 to 2.5Mb in 14q 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {438, cases 1, 4, 5, 6, 7, 10, 14, 16}
RC/W-
14-
p11
q32.33/
  1-21 to 1-29
 		  5 male, 4 female/
2y to 23y 		PBL
?dn
 		46,XN,r(14)(p11q32.33)
dynamic mosaicism:
45,XN,-14[5-20%]
loss of <0.2 to 3.4Mb in 14q 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, retinal pigmentation

 {438, cases 2, 3, 8, 11, 12, 13*, 17, 19, 20} {* = 441}
RC/W-
14-
p11q32.33/
1-30 		female/
21y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
dynamic mosaicism
loss of 1.7Mb at 14qter
 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation

 {439}
RC/W-
14-
p11q32.33/
1-31 to 1-41
 		4 females and 7 males/
1 to 36y 		PBL
?dn
 		46,XN,r(14)(p11q32.33)
dynamic mosaicism:

– specified in paper

loss of <1Mb at 14qter 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures;
in 5 cases retinal pigmentation

 {445, cases 1, 3, 6, 7, 8, 10, 12, 19, 20; - these also in 453; and 445, cases 32, 34;1218}
RC/W-
14-
p11q32.33/
1-42 		female/
8.6y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
dynamic mosaicism:
46,XX,r(14)[28]/
45,XX,-14[4]
acc. to FISH subtel loss at 14qter
 		GTG
FISH

DD, microcephaly, growth retardation, DYS, seizures

 {446, case 1}
RC/W-
14-
p11q32.33/
1-43 		female/
10y 		PBL
?dn
 		46,XX,r(14)(p11q32.33)
acc. to FISH subtel loss at 14qter
 		GTG
FISH

DD, microcephaly, growth retardation, DYS

 {1226}
literature not accessible
RC/W-
14-
p11q32.33/
1-44 		n.a./
prenatal
 		AF
 		dn
 		46,XN,r(14)(p11q32.33)
acc. to aCGH  loss of ~3Mb at 14qter
 		GTG
aCGH

DYS

 {1308, case 4 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-45 		male/
4y
 		PBL
 		?dn
 		46,XY,r(14)(p11q32.33)
acc. to aCGH  loss of ~1Mb at 14qter
 		GTG
aCGH

DD, microcephaly, DYS, seizures, hypotonia

 {1638; 1639 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-46 		female/
27y
 		PBL
 		dn
 		46,XX,r(14)(p11q32.33)
dynamic mosaicism:
46,XX,r(14)[80]/45,XX,-14[20]
acc. to aCGH  loss of ~0.65Mb at 14qter
 		GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, hypotonia, dipigmentation

 {1646 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-47 		male/
1y
 		PBL
 		?dn
 		46,XY,r(14)(p11q32.33)
acc. to aCGH  loss at 14qter (not detailed)
 		GTG
aCGH

seizures

 {1649 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-48 to 1-49 		male and female/
postnatal
 		PBL
 		?dn
 		46,XN,r(14)(p11q32.33)
acc. to aCGH / WES no loss at 14qter
GTG
aCGH
WES

DD, seizures

 {2013, cases 5 and 7 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
1-50 		  female/
postnatal
 		PBL
 		?dn
 		46,XX,r(14)(p11q32.33)
acc. to aCGH / WES 1.66 Mb loss at 14qter
GTG
aCGH
WES

DD, seizures

 {2013, case 6 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11q32.33/
2-1 		male/
3y 		PBL
?dn

46,XY,r(14)(p11->q32.2::q32.2->q32.33)

dynamic mosaicism:
19% with 45,XY,-14

loss of 3.2Mb at 14qter and gain of 1.3Mb in 14q32.2
GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation

 {445, case 11; also in 453; 1218}
RC/W-
14-
p11q32.33/
3-1 		male/
9y 		PBL
?dn

46,XY,r(14)(p11->q32.12::q32.31->q32.32:)

dynamic mosaicism:
28% with 45,XY,-14

loss of 4.4Mb at 14qter and gain of 9.7Mb in 14q32.12-q32.31
GTG
FISH
aCGH

DD, microcephaly, growth retardation, DYS, seizures

 {445, case 33}
RC/W-
14-
p11q32.33/
4-1 		male/
16y 		PBL
?dn
 		46,XY,der(16)(16pter->16qter::
14q12->14qter),
r(14;14)(p11->q12::
q12->p11)[38]/ 45,XY,der(16)(16pter->16qter:
:14q12->14qter)[22] 		GTG
 		Autism, DD {435}
RC/W-
14-
p11q32.33/
5-1
 		male/
~6y 		PBL, fibros dn

46,XY,r(14)(p11->q32.33::q32.33->q32.33)

loss of ~0.8Mb at 14qter and gain of 1.7Mb in 14q32.32
GTG
aCGH

DD, DYS, seizure

 {625, case 14-1; 602}
RC/W-
14-
p11.2q31/
1-1
 		male/
4y 		PBL
 		?dn
 		46,XY,r(14)(p11.2q31) GTG
CGH

DD, microcephaly, micrognathia, hypotonia, DYS, seizures

 {1627 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32/
1-1
 		female/
~0.1y 		PBL
fibros
 		?dn
 		46,XX,r(14)(p11.2q32)
dynamic mosaicism:
46,XX,r(14)/45,XX,-14 		GTG

DD, microcephaly,  DYS, seizures

 {427; 1628 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32/
1-2 to 1-3
 		males/
prenatal 		AF
 		?dn
 		46,XY,r(14)(p11.2q32)
GTG
FISH

n.a.

 {1624, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32.2/
1-1
 		female/
~0.7y 		PBL
dn
 		46,XY,r(14)(p11.2q32.2)
GTG

 seizures

 {830, case 1}
RC/W-
14-
p11.2q32.3/
1-1
 		male/
1.5y 		PBL
dn
 		46,XY,r(14)(p11.2q32.3)
dynamic mosaicism:
46,XY,r(14)/45,XY,-14 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {414}
RC/W-
14-
p11.2q32.3/
1-2
 		female/
~0.6y 		PBL
dn
 		46,XX,r(14)(p11.2q32.3) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {430, case HSC27804}
RC/W-
14-
p11.2q32.3/
1-3
 		female/
~1y 		PBL
dn
 		46,XX,r(14)(p11.2q32.3) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {431}
RC/W-
14-
p11.2q32.3/
1-4
 		female/
~0.75y 		PBL
?dn
 		46,XX,r(14)(p11.2q32.3) GTG

DD, microcephaly, growth retardation, DYS, seizures

 {452}
 literature not accessible
RC/W-
14-
p11.2q32.3/
1-5
 		male/
4y 		PBL
?dn
 		46,XY,r(14)(p11.2q32.3) GTG

 seizures, infections

 {1626, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32.3/
1-6
 		female/
1.7y 		PBL
?dn
 		46,XX,r(14)(p11.2q32.3)
dynamic mosaicism:
46,XX,r(14)[77]/45,XX,-14[20]/47,XX,r(14)x2[1]/46,XX[2] 		GTG

DD, DYS, seizures

 {1647 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32.3/
1-7
 		male/
5y 		PBL
?dn
 		46,XY,r(14)(p11.2q32.3)
dynamic mosaicism:
46,XY,r(14)/45,XY,-14/
46,XY,dr(14) 		GTG

DD, seizures, growth retardation

 {1650, case 2 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32.31~q32.2/
1-1
 		male/
1y 		PBL
dn
 		46,XY,r(14)(p11.2q32.31~q32.2)
dynamic mosaicism:
46,XY,r(14)[84]/45,XY,-14[10]/
46,XY,dr(14)[6] 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {429}
RC/W-
14-
p11.2q32.33/
1-1
 		male/
~0.8y 		PBL
dn
 		46,XY,r(14)(p11.2q32.33)
dynamic mosaicism with 45,XY,-14
reported in abstract but not in
main content of paper 		GTG

DD, microcephaly, growth retardation, DYS, seizures

 {426, case 2}
RC/W-
14-
p11.2q32.33/
1-2
 		female/
prenatal 		AF
 		?dn
 		46,XX,r(14)(p11.2q32.33)
dynamic mosaicism:
46,XX,r(14)[3]/45,XX,-14[25]
  		GTG

DD, DYS, heart defect, TOP

 {1645 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.2q32.33/
1-3
 		male/
prenatal 		AF
 		?dn
 		46,XY,r(14)(p11.2q32.33)
dynamic mosaicism:
46,XX,r(14)[11]/45,XX,-14[10]
acc. to aCGH ~2.4Mb lost on 14qter 		GTG
aCGH

DYS, TOP

 {2099, case 16}
RC/W-
14-
p11.1q32/
1-1
 		male/
5y 		PBL
?dn

46,XY,r(14)(p11.1q32)

 GTG

DD, microcephaly, growth retardation, DYS

 {561, case 2; 2098}
RC/W-
14-
p11.1q32.2/
1-1
 		female/
22y 		PBL
?dn
 		46,XX,r(14)(p11.1q32.2)
acc. to FISH IGH locus lost on r(14) 		GTG
FISH

n.a.

 {1663 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
14-
p11.1q32.3/
1-1
 		female/
11y 		PBL
?dn
 		46,XX,r(14)(p11.1q32.3)  GTG

DD, microcephaly, growth retardation, DYS, seizures, macula pigmentation

 {448}

Ref 387 - not clear if only review or case reported
see Ref 439 for comparison of r(14) and del(14)(qter) patients
Ref 1651 - russioan review on RC(14)