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

Guideline for management of RC(14) patients see Refs 552, 1661, 1162
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/
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)(p1?1q32.33)
46,XY,r(14)[86]/45/XX,-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-
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}
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-
p12q32.2/
1-1
 		female/
newborn 		PBL
?dn

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

46,XX,r(14)(::p12->q32.2::q32.2->q23::)[20]/
46,XX,r(14)(p12q32.2)[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 aCGH2.5Mb 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:
45,XX,-14[31]/46,XX,r(14)[69]
 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:
45,XX,-14[7]/46,XX,r(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/
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,dic r(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,dic r(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-
p11.1q32/
1-1
 		male/
5y 		PBL
?dn

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

 GTG

DD, microcephaly, growth retardation, DYS

 {561, case 2}
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)