ChromosOmics - Database





                                                  - CHROMOSOME  22 -                                                

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
- DYS = dysmorphic facial features
- seizures
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), hypotonia, kidney problems (acc. to 1235)
NF2 also in case of loss of r(22) and mutation in Merlin Gene in 22q12.2 (hg19: 29,999,546-30,094,589) on normal chromosome 22 (happens in 5% of cases acc. to 1237)
 Phelan-McDermid syndrome (PMD-syndrome) in case of loss of critical region (SHANK3 gene in 22q33.33 - chr22:51,111,252-51,171,640 - hg19) - 11% of PMD-patients have a r(22) (acc. to 1237)

For: Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22. - see Ref 1137
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-
22-
p1?1q1?3/
1-1

female/
35y

PBL

pat

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism:
46,XX,r(22)[50]/46,XX[~50] 		GTG

normal

father and 3 children also normal  		{1, case RC22-31; 1056}
RC/O-
22-
p1?1q1?3/
1-2

female/
27y

PBL

pat

46,XX,r(22)(p1?1q1?3)

 GTG

normal

mother also normal(?) 		{1, case RC22-33; 1058}
literature not accessible
RC/O-
22-
p1?1q1?3/
1-3

n.a./
prenatal

AF

pat

46,XN,r(22)(p1?1q1?3)

 GTG

normal

at birth, father normal 		{1, case RC22-35; 1060, case 2}
literature not accessible
RC/O-
22-
p1?1q1?3/
1-4

male/
31y

PBL

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XY,r(22)[93%]/45,XY,-22[7]

GTG

FISH

normal

infertile, azoospermia

 {1, case RC22-142; 1095}
RC/O-
22-
p11q13.32/
1-1

female/
adult

PBL

?dn

 46,XX,r(22)(p11->q13.32::q13.31->q13.32)
acc. to aCGH ~0.95Mb loss in 22qter and ~0.8Mb dup in 22q13.31q13.32

GTG

FISH
aCGH

 normal
child with same ring affected fomr r(22) syndrome
 		{1, case RC22-132; 1099, case 33}
RC/O-
22-
p11q13.32/
1-2

male/
2y

PBL

?dn

 46,XX,r(22)(p11->q13.32::q13.31->q13.32)
acc. to aCGH ~2.4Mb loss in 22qter

GTG

aCGH

 normal
at 2y NF2
 		{1, case RC22-238; 1133}
RC/O-
22-
p11q13.33/
1-1

male/
29y

PBL

?dn

 46,XY,r(22)(p11q13.33)

GTG

normal, infertile

azoospermia 		{1, case RC22-150; 1113}
literature not accessible
RC/O-
22-
p13q13/
1-1

male/
adult

PBL

?dn

 46,der(X)t(X;22)
(22qter->22q13:
:Xp22.3->Xqter),Y,
r(22)(p13q13)

GTG

FISH

 normal
at 18y vestibular schwannoma 		{1094, case 4}
RC/O-
22-
p13q13.3/
1-1

female/
adult

PBL

?dn

46,XX,r(22)(p13q13.3)

acc. to MolGen no loss at 22qter

GTG

FISH

MolGen 		normal
child with r(22) and DGS due to del(22)(q11.2q11.2) 		{1, case RC22-62; 1085; also included in 1096, case W}
RC/O-
22-
p12q13.33/
1-1

female/
adult

PBL

?dn

46,XX,r(22)(p13q13.33)

dynamic mosaicism:

46,XX,r(22)[7%]

acc. to aCGH and FISH no loss at 22qter

GTG

FISH

aCGH

normal

child with altered r(22)(p13q13.31)

aCGH – loss of 3.5Mb at 22qter

 {1, case RC22-134; 1084}
RC/O-
22-
p12q13.1/
1-1

female/
9y

PBL

?dn

46,XX,r(22)(p13q13.31)

acc. to aCGH 3.8Mb loss in 22qter 		GTG
 		club foot {900}
RC/O-
22-
p12q13/
1-1

n.a./
26y

PBL

?dn

 46,XN,r(22)(p12q13) GTG

normal, infertile

 {541, case 2}
RC/O-
22-
p12q13.3/
1-1

male/
43y

PBL

?dn

 46,XY,r(22)(p12q13.3) GTG

normal, infertile

azoospermia 		{625, case 22-1}
RC/O-
22-
p12q13.3/
1-2a and 1-2b

male/
28y

PBL

?dn

46,XY,r(22)(p12q13.3)

Subtelomer 22qter present

GTG

FISH

 normal, infertile, azoospermia
same in brother
 		{1, case RC22-147; 1107}


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-
22-
p1?1q1?3/
1-1

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3) GTG
 		DD
 		{936, case 1}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-2

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3) GTG
 		DD
 		{936, case 2}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-3

female/
newborn

PBL
fibro

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism (only in fibros):
46,XX,r(22)[190]/45,XX,-22)[10] 		GTG
 		DD, macrocephaly, DYS {1, case RC22-24; 937, case 1; 982, case 4}
RC/W-
22-
p1?1q1?3/
1-4

n.a./
child

PBL

?dn

46,XX,r(22)(p1?1q1?3)

GTG
 		DD, microcephaly, DYS {1, case RC22-40; 681, case PM}
RC/W-
22-
p1?1q1?3/
1-5

male/
prenatal

AF
fibros

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:
46,XY,r(22)/46,XY 		GTG
 		  DYS {590, case V-2}
RC/W-
22-
p1?1q1?3/
1-6

male/
prenatal

AF
fibros

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:
46,XY,r(22)/46,XY 		GTG
 		  DYS {590, case V-3}
RC/W-
22-
p1?1q1?3/
1-7

female/
n.a.

PBL

?dn

 46,XX,r(22)(p1?1q1?3) GTG
 		  DD {1, case RC22-1; 576, case BF; 1020, case 2; 1036} literature not accessible
RC/W-
22-
p1?1q1?3/
1-8

male/
~1y

PBL

fibros

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:
46,XY,r(22)/46,XY

GTG

DD, growth retardation, microcephaly, DYS, hypotonia

 {1, case RC22-4; 1037}
RC/W-
22-
p1?1q1?3/
1-8

male/
n.a.

PBL

fibros

?dn

46,XY,r(22)(p1?1q1?3)

GTG

DD

 {1, case RC22-6; 1038}
RC/W-
22-
p1?1q1?3/
1-9

female/
4y

PBL

fibros

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism

GTG

DD, growth retardation, microcephaly, DYS, dispigmentation

 {1, case RC22-9; 1039}
RC/W-
22-
p1?1q1?3/
1-10

n.a./
n.a.

PBL

?dn

 46,XX,r(22)(p1?1q1?3) GTG
 		  DD {1040} literature not accessible
RC/W-
22-
p1?1q1?3/
1-11

female/
38y

PBL

?dn

 46,XX,r(22)(p1?1q1?3)

GTG

severe DD, DYS

 {1, case RC22-12; 1041}
RC/W-
22-
p1?1q1?3/
1-12

female/
17y

PBL

?dn

 46,XX,r(22)(p1?1q1?3)

GTG

severe DD, DYS

 {1, case RC22-18; 1042}
RC/W-
22-
p1?1q1?3/
1-13 to 1-16

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DD

 {1, cases RC22-14 to 17, 1043, 4 cases} literature not accessible
RC/W-
22-
p1?1q1?3/
1-17

female/
5y

PBL

?dn

 46,XX,r(22)(p1?1q1?3)

GTG

growth retardation, microcephaly, DD, DYS

 {1, case RC22-13; 1044}
RC/W-
22-
p1?1q1?3/
1-18

female/
9y

PBL

fibros

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism (mainly in fibros):

46,XX,r(22)[93]/47,XX,r(22)x2)[2]/

45,XX,-22[4]

GTG

growth retardation, DD, DYS, seizures

 {1, case RC22-22; 1045, case 1}
RC/W-
22-
p1?1q1?3/
1-19

female/
41y

PBL

fibros

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism (only in fibros):

46,XX,r(22)[16]/47,XX,r(22)x2)[9]/

45,XX,-22[5]

GTG

growth retardation, DD, DYS

 {1, case RC22-23; 1045, case 2}
RC/W-
22-
p1?1q1?3/
1-20

male/
~6y

PBL

fibros

?dn

 46,XY,r(22)(p1?1q1?3)

GTG

growth retardation, DD, DYS

 {1, case RC22-21; 1046}
RC/W-
22-
p1?1q1?3/
1-21

female/
~1y

PBL

fibros

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XX,r(22)/46,XX,dr(22)

GTG

growth retardation, DD, DYS

 {1, case RC22-19; 1047, case 1}
RC/W-
22-
p1?1q1?3/
1-22

female/
~4y

PBL

fibros

dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XX,r(22)[99]/46,XX,dr(22)[1]

GTG

growth retardation, microcephaly, DD, DYS, hypotonia

 {1, case RC22-20; 1047, case 2}
RC/W-
22-
p1?1q1?3/
1-23 to 1-24

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DD

 {1049, 2 cases}
RC/W-
22-
p1?1q1?3/
1-25

male/
~8y

PBL

fibros

?dn

 46,XY,r(22)(p1?1q1?3)

GTG

growth retardation, DD, DYS, seizures

 {1, case RC22-29; 1051}
RC/W-
22-
p1?1q1?3/
1-26

female/
4y

PBL

fibros

dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XX,r(22)[47]/45,XX,-22[2]

GTG

growth retardation, DD, DYS

 {1, case RC22-26; 1052, case 1}
RC/W-
22-
p1?1q1?3/
1-27

female/
2y

PBL

fibros

dn

 46,XX,r(22)(p1?1q1?3)

GTG

micrognathia, microcephaly, growth retardation, DD, DYS

 {1, case RC22-27; 1052, case 2}
RC/W-
22-
p1?1q1?3/
1-28

male/
3y

PBL

fibros

mat

46,XX/46,XX,r(22)/
45,XX,trob(15;22)

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XY,r(22)[170]/46,XY,dr(21)[2]/

45,XX,-22[9]

GTG

micorgnathia, microcephaly, growth retardation, DD, DYS, hypotonia

 {1, case RC22-28; 1053}
RC/W-
22-
p1?1q1?3/
1-29

male/
~3y

PBL

dn

 46,XY,r(22)(p1?1q1?3)

GTG

growth retardation, DD, DYS, hypotonia

 {1, case RC22-30; 1054}
RC/W-
22-
p1?1q1?3/
1-30

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DD

 {1055; 1057, case 2} literature not accessible
RC/W-
22-
p1?1q1?3/
1-31

male/
25y

PBL

?dn

 46,XY,r(22)(p1?1q1?3)

GTG

DD, DYS, seizures

{1, case RC22-32; 1059}
RC/W-
22-
p1?1q1?3/
1-32

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DYS, growth retardation

 {1060, case 3}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-33

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DYS, growth retardation

 {1, case RC22-39; 1065}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-34

n.a./
prenatal

AF

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DYS, growth retardation, TOP

 {1, case RC22-38; 1066}
RC/W-
22-
p1?1q1?3/
1-35

male/
6y

PBL

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XY,r(22)[18]/46,XY[9]

GTG

DD, growth retardation, DYS, hypotonia,

dispigmentation;

NF2 from ~22y 		{1, case RC22-44; 1069}
RC/W-
22-
p1?1q1?3/
1-36

male/
newborn

PBL

?dn

 46,XY,r(22)(p1?1q1?3)

GTG

DD, growth retardation, DYS, hypotonia; Opitz or BBBG syndrome

 {1, case RC22-43; 1070}
RC/W-
22-
p1?1q1?3/
1-37

n.a./
n.a.

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DYS, growth retardation

 {1071}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-38

male/
25y

PBL

?dn

46,XY,r(22)(p1?1q1?3)

dynamic mosaicism:

45,XY,-22[1]/46,XY,r(22)[14]/

47,XY,r(22),+mar(14/22)[33]/

47,XY,r(22)x2[2]

GTG

FISH

DD, growth retardation, DYS, hypotonia;

NF2 from ~22y

 {1, case RC22-47; 1073}
RC/W-
22-
p1?1q1?3/
1-39

male/
3y

PBL

dn

46,XY,r(22)(p1?1q1?3)

GTG

DD, dispigmentation

 {1, case RC22-51; 1048, case 1}
RC/W-
22-
p1?1q1?3/
1-40

female/
4y

PBL

fibros

?dn

46,XX,r(22)(p1?1q1?3)

dynamic mosaicism:

46,XX,r(22)[36]/45,XX,–22[4]

GTG

FISH

DD, growth retardation, DYS, seizures,

at 4y atypical teratoid/rhabdoid tumor

 {1, case RC22-57; 1079}
RC/W-
22-
p1?1q1?3/
1-41

male/
~13.5y

PBL

?dn

46,XY,r(22)(p1?1q1?3)

GTG

DD, autism

 {1, case RC22-58; 1080}
literature not accessible
RC/W-
22-
p1?1q1?3/
1-42

female/
7y

PBL

?dn

46,XX,r(22)(p1?1q1?3)

GTG

DD, DYS, hypotonia

 {1, case RC22-68; 1087, case 3}
RC/W-
22-
p1?1q1?3/
1-43

male/
8y

PBL

?dn

46,XY,r(22)(p1?1q1?3)

GTG

DD, DYS

 {1, case RC22-69; 1087, case 4}
RC/W-
22-
p1?1q1?3/
1-44

female/
20y

PBL

?dn

 46,XX,r(22)(p1?1q1?3)

GTG

FISH

DD; vestibular schwannoma; multiple intracranial meningiomas

 {1, case RC22-91; 1094, case 1}
RC/W-
22-
p1?1q1?3/
1-45

male/
5y

PBL

?dn

 46,XY,r(22)(p1?1q1?3)

GTG

growth retardation, DD, DYS, microcephaly

 {1, case RC22-149; 1110}
RC/W-
22-
p1?1q1?3/
1-46

female/
18y

PBL

?dn

 46,XX,r(22)(p1?1q1?3)

GTG

DD; NF2

 {1, case RC22-237; 1132}
RC/W-
22-
p1?1q1?3/
1-47

male/
4y

PBL

dn

 46,XY,r(22)(p1?1q1?3)

GTG

DD, DYS

 {1210}
RC/W-
22-
p1?1q1?3/
1-48 to 1-49

n.a./
postnatal

PBL

?dn

 46,XN,r(22)(p1?1q1?3)

GTG

DD, DYS, Phelan-McDermid syndrome

 {1241, 2 cases}
RC/W-
22-
p11q13/
1-1

female/
6y

PBL

fibros

dn

46,XX,r(22)(p11q13)

dynamic mosaicism:

46,XX,r(22)[90]/46,XX,dr(22)[2]/

47,XX,r(22)x2)[2]/

45,XX,-22[1]

GTG

growth retardation, DD, DYS

 {1, case RC22-21; 1050}
RC/W-
22-
p11q13/
1-2

male/
5y

PBL

?dn

46,XY,r(22)(p11q13)

GTG
ISH

DD, growth retardation, DYS
dispigmentation;
NF2 from ~22y

 {1, case RC22-37; 1064}
RC/W-
22-
p11q13/
1-3

female/
3y

PBL

?dn

46,XX,r(22)(p11q13)

GTG

DYS, DD, hypotonia

 {1, case RC22-46; 1072}
RC/W-
22-
p11q13/
1-4

male/
15y

PBL

?dn

46,XY,r(22)(p11q13)

GTG

FISH

DD, growth retardation, microcephaly, DYS, hypotonia;

meningiomas

 {1, case RC22-48; 1074}
RC/W-
22-
p11q13/
1-5

male/
n.a.

PBL

?dn

46,XY,r(22)(p11q13)

dynamic mosaicism:

45,XY,-22/46,XY,r(22)/46,XY

GTG

DD

 {1, case RC22-49; 1075} literature not accessible
RC/W-
22-
p11q13/
1-6

male/
21y

PBL

dn

46,XY,r(22)(p11q13.3)
acc. to Molgen 4Mb loss at 22qter

GTG
MolGen

DD, seizures

 {1, case RC22-45 and 51; 1076; 1096, case SO}
RC/W-
22-
p11q13/
1-7

male/
child

PBL

?dn

45,X,t(Y;21)(q10q10),

r(22)(p11q13)

Subtelomer 22qter absent

GTG

FISH

DD, growth retardation, DYS

 {1, case RC22-54; 1077}
RC/W-
22-
p11q13/
1-8

female/
52y

PBL

?dn

46,XX,r(22)(p11q13)

dynamic mosaicism: 46,XX,r(22)[47]/45,XX,-22[3]

Subtelomer 22qter absent

GTG

FISH

DD, seizure, meningiomas

 {1, case RC22-92; 1094, case 2}
RC/W-
22-
p11q13/
1-9

female/
39y

PBL

?dn

46,XX,r(22)(p11q13)

dynamic mosaicism: 46,XX,r(22)[80]/45,XX,-22[20]

Subtelomer 22qter absent

GTG

FISH

DD, seizure, vestibular schwannoma

 {1, case RC22-93; 1094, case 3}
RC/W-
22-
p11q13/
2-1

female/
prenatal

AF

mat
inv(22)(q11.2q13.3)

46,XX,r(22)(p11->q11.2::q13->q11.2)

loss of DGS-CR

GTG

FISH

DYS, TOP

 {1, case RC22-128; 1097}
RC/W-
22-
p11q13.31/
1-1

n.a./
postnatal

PBL

dn

46,XN,r(22)(p11q13.31)

acc. to aCGH loss of ~3.1MB in 22qter

GTG

FISH
aCGH

DYS

 {1, case RC22-130; 1099, case 31}
RC/W-
22-
p11q13.31/
1-2

male/
postnatal

PBL

dn

46,XY,r(22)(p11q13.31)

acc. to aCGH ~5.2Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1108, case 27}
RC/W-
22-
p11q13.31/
1-3

male/
postnatal

PBL

dn

 46,XY,r(22)(p11q13.31)

dynamic mosaicism: 30%
acc. to aCGH loss of ~3.2MB in 22qter

GTG

FISH
aCGH

DD, DYS

 {1108, case 29}
RC/W-
22-
p11q13.31/
1-4

male/
postnatal

PBL

dn

 46,XY,r(22)(p11q13.31)

acc. to aCGH loss of ~4.3MB in 22qter

GTG
aCGH

DD, DYS

 {1, case RC22-157; 1115 case 7}
RC/W-
22-
p11q13.31/
1-5

male/
postnatal

PBL

dn

 46,XY,r(22)(p11q13.31)
dynamic mosaicism:
46,XX,r(22)[19]/46,XX,+dr(22)[1]

acc. to aCGH loss of ~.1MB in 22qter

GTG
aCGH

DD, DYS, NF2

 {1, case RC22-184; 1122}
RC/W-
22-
p11q13.2/
1-1

male/
9y

PBL

?dn

46,XY,r(22)(p11q13.2)

acc. to aCGH ~8.4Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-39; 1105, case 11}
RC/W-
22-
p11q13.2/
1-2

male/
5y

PBL

?dn

46,XY,r(22)(p11q13.2)

acc. to aCGH ~8.6Mb loss at 22qter

GTG

aCGH

DD, growth retardation, DYS,
seizures

 {1, case RC22-40; 1105, case 12}
RC/W-
22-
p11q13.2/
1-3

male/
n.a.

PBL

dn

46,XY,r(22)(p11q13.2)

acc. to aCGH ~8Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-158; 1115, case 24}
RC/W-
22-
p11q13.2/
1-4

male/
n.a.

PBL

?dn

46,XY,r(22)(p11q13.2)

acc. to aCGH ~7Mb loss at 22qter

GTG
FISH

aCGH

DD, DYS

 {1, case RC22-183; 1121, case 1}
literature not accessible
RC/W-
22-
p11q13.2/
2-1

female/
~1y

PBL

?dn

46,XX,dr(22)(q13.2->p11::p11->q13.2)

dynamic mosaicism:

46,XX,del(22)(q13.2)[87]/46,XX,dr(22)[13]

GTG

FISH

DYS

 {1090}
RC/W-
22-
p11q13.2~13.33/
1-1 to 1-26

male and female/
postnatal

PBL

?dn

 46,XN,r(22)(p11q13.3)
differently sized deletions only shown in a graph
 		GTG
aCGH
 		DD, kidnes diseases
 		{1235, 26 cases}
RC/W-
22-
p11q13.3/
1-1

male/
n.a.

PBL

?dn

 46,XY,r(22)(p11q13.3) GTG
 		n.a.
 		{541, case 22}
RC/W-
22-
p11q13.3/
1-2

female/
~1y

PBL

dn

46,XX,r(22)(p11q13.3)

acc. to Molgen ~0.3Mb loss at 22qter

GTG

Molgen

DYS, DD

 {1, case RC22-52; 1063}
RC/W-
22-
p11q13.3/
1-3

male/
11y

PBL

?dn

46,XY,r(22)(p13q13.3)

dynamic mosaicism:

46,XY,r(22)[33]/46,XY,dr(22)[1]/

45,XY,-22[2]

acc. to FISH ~0.3Mb loss in 22qter

GTG

FISH

DD, microcephaly, growth retardation, DYS

 {1, case RC22-63; 1083}
RC/W-
22-
p11q13.3/
1-4 to 1-19

n.a./
n.a.

PBL

?dn

46,XY,r(22)(p11q13.3)

acc. to Molgen between 0.3 and 7.3Mb loss at 22qter

GTG

Molgen

DD, growth retardation, DYS

 {1, cases RC22-71 to 87; 1089,  16 cases – unclear if familial cases included}
RC/W-
22-
p11q13.3/
1-20

n.a./
n.a.

PBL

?dn

46,XN,r(22)(p11q13.3)

Subtelomer 22qter absent

GTG

FISH

DD

 {1091, case A}
RC/W-
22-
p11q13.3/
1-21

n.a./
n.a.

PBL

?dn

46,XN,r(22)(p11q13.3)

Subtelomer 22qter present

GTG

FISH

DD

 {1091, case B}
RC/W-
22-
p11q13.3/
1-22

female/
prenatal

AF

?dn

46,XX,r(22)(p11q13.3)

Subtelomer 22qter absent

GTG

FISH

DYS, TOP

 {1, case RC22-89; 1093}
RC/W-
22-
p11q13.3/
1-23 to 1-50

12 females; 16 males/
1 to 21y

PBL

?dn

46,XN,r(22)(p11q13.3)

acc. to MolGen ~0.2 to ~7Mb loss at 22qter

GTG

FISH

DD, others

 {1, cases RC22-95 to 126; 1096, 28 cases}
RC/W-
22-
p11q13.3/
1-51

female/
prenatal

AF

?dn

46,XX,r(22)(p11q13.3)

dynamic mosaicism:

46,XX,r(22)[63]/46,XX,dr(22)[2]/

45,XX,-22[3]

Subtelomer 22qter absent

GTG

FISH

DYS, TOP

 {1, case RC22-135; 1101}
RC/W-
22-
p11q13.3/
1-52 to 1-65

14 patients/
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

acc. to aCGH ~2.2 to ~7.7Mb loss at 22qter

GTG

aCGH

DD, others

 {1, case RC22-169 to 182; 1119, 14 patients}
RC/W-
22-
p11q13.3/
1-66 to 1-69

4 patients/
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

studied by aCGH - data well hidden in suppl. Tables

GTG

aCGH

DD, others

 {1, case RC22-186 to 189; 1124, 4 cases}
RC/W-
22-
p11q13.3/
1-70

n.a./
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

Subtelomer 22qter absent

GTG

FISH

DD

 {1, case RC22-192, 1128, 1 case}
RC/W-
22-
p11q13.3/
1-71 to 1-107

n.a./
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

GTG

DD, others

 {1, case RC22-194 to 229; 1131, 37 cases}
RC/W-
22-
p11q13.3/
1-108 to 1-114

n.a./
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

GTG

DD, others, NF2

 {1, case RC22-230 to 236, 1131, 7 cases}
RC/W-
22-
p11q13.3/
1-115 to 1-134

n.a./
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

acc. to MolGen 3.53+/-2.44 MbMb loss at 22qter

GTG

aCGH

DD, others

 {1, case RC22-240 to 259; 1134, 20 cases}
RC/W-
22-
p11q13.3/
1-135 to 1-140

6 patients/
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

acc. to aCGH data well hidden

GTG

aCGH

DD, others

 {1139, 6 cases}
RC/W-
22-
p11q13.3/
1-141

female/
child

PBL

?dn

46,XX,r(22)(p11q13.3)

GTG

DD, DYS

 {1213}
RC/W-
22-
p11q13.3/
1-142

female/
4y

PBL

dn

46,XX,r(22)(p11q13.3)

Subtelomere 22qter present

GTG

FISH

DD, DYS, growth retardation

 {1214}
RC/W-
22-
p11q13.3/
1-143 to 1-185

male and female/
postnatal

PBL

?dn

46,XN,r(22)(p11q13.3)

GTG

DD, DYS, growth retardation

 {1237, 43 cases}
RC/W-
22-
p11q13.32/
1-1

female/
child

PBL

fibros

?dn

46,XX,r(22)(p11q13.32)

dynamic mosaicism:

46,XX,r(22)[36]/45,XX,–22[4]

acc. to MolGen ~2Mb loss at 22qter

GTG

FISH

DD, growth retardation, DYS, seizures,

at 38y NF2

 {1, case RC22-56; 1078; also included in 1096, case K}
RC/W-
22-
p11q13.32/
1-2

female/
~2y

PBL

?dn

46,XX,r(22)(p11q13.32)

(in schwannoma all cells with r(22) loss)

acc. to FISH 2.5Mb loss at 22qter

GTG

FISH

DD, microcephaly, hypotonia, dispigmentation, NF2 at ~20y

 {1, case RC22-133; 1102}
RC/W-
22-
p11q13.32/
1-3

female/
~2y

PBL

?dn

46,XX,r(22)(p11q13.32)

acc. to aCGH 2.6Mb loss at 22qter

GTG

FISH
aCGH

DD, microcephaly, hypotonia, dispigmentation, NF2 at ~20y

 {1, case RC22-131; 1099, case 32}
RC/W-
22-
p11q13.32/
1-4

female/
n.a.

PBL

dn

46,XX,r(22)(p11q13.32)

acc. to aCGH ~2.2Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1108, case 25}
RC/W-
22-
p11q13.32/
1-5

male/
n.a.

PBL

?dn

46,XY,r(22)(p11q13.32)

acc. to aCGH 2.1Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1108, case 33}
RC/W-
22-
p11q13.32/
1-6

male/
18y

PBL

?dn

46,XY,r(22)(p11q13.32)

acc. to aCGH ~1.6Mb loss at 22qter

GTG

aCGH

DD, DYS, dispigmentation, NF2 at 18y

 {1, case RC22-141; 1111}
RC/W-
22-
p11q13.32/
1-7

male/
postnatal

PBL

dn

46,XY,r(22)(p11q13.32)

acc. to aCGH ~2.3Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-154; 1115, case 1}
RC/W-
22-
p11q13.32/
1-8

male/
postnatal

PBL

dn

46,XY,r(22)(p11q13.32)

acc. to aCGH ~2.8Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, RC22-155; 1115, case 2}
RC/W-
22-
p11q13.32/
1-9

male/
postnatal

PBL

dn

46,XY,r(22)(p11q13.32)

acc. to aCGH ~2.1Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-156; 1115, case 3}
RC/W-
22-
p11q13.32/
2-1

female/
1y

PBL
fibros

?dn

46,XX,r(22)(p11->q13.32::q13.32->q13.32)

dynamic mosaicism:

46,XX,r(22)[92]/45,XX,-22[8]

acc. to aCGH ~2Mb loss at 22qter and ~0.18Mb gain at 22q13.32
also del(3)(q13.31q13.31)

GTG

FISH
aCGH

DD, DYS

 {1, case RC22-190; 1125; 1126}
RC/W-
22-
p11q13.33/
1-1

male/
postnatal

PBL

?dn

46,XY,r(22)(p11q13.33)

Subtelomer 22qter absent

GTG

FISH

DD, DYS

 {1112, case MB}
RC/W-
22-
p11q13.33/
1-2

female/
postnatal

PBL

?dn

46,XX,r(22)(p11q13.33)

dynamic mosaicism:

46,XX,r(22)[34]/46,XX[66]

Subtelomer 22qter absent

GTG

FISH

DD, DYS

 {1112, case GA}
RC/W-
22-
p11q13.33/
1-3

female/
postnatal

PBL

?dn

46,XX,r(22)(p11q13.33)

dynamic mosaicism:

46,XX,r(22)[28]/46,XX[72]
Subtelomer 22qter absent

GTG

FISH

DD, DYS

 {1112, case GC}
RC/W-
22-
p11q13.33/
1-4

female/
postnatal

PBL

?dn

46,XX,r(22)(p11q13.33)

acc. to aCGH ~1.7Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-159; 1115, case 26}
RC/W-
22-
p11q13.33/
1-5

male/
5y

PBL

?dn

46,XY,r(22)(p11q13.33)

acc. to aCGH ~1.35Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-151; 1116, case 1}
RC/W-
22-
p11q13.33/
1-6

female/
5y

PBL

?dn

46,XX,r(22)(p11q13.33)

acc. to aCGH ~0.3Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-152; 1116, case 2}
RC/W-
22-
p11q13.33/
1-7

male/
n.a.

PBL

?dn

46,XY,r(22)(p11q13.33)

acc. to aCGH ~1.6Mb loss at 22qter

GTG
FISH

aCGH

DD, DYS

 {1, case RC22-183; 1121, case 2} literature not accessible
RC/W-
22-
p11q13.33/
1-8

female/
child

PBL

?dn

46,XX,r(22)(p11q13.33)

acc. to aCGH ~1 Mb loss at 22qter

GTG
FISH

aCGH

DD, DYS

 {1, case RC22-185; 1123}
RC/W-
22-
p11q13.33/
1-9

female/
~2y

PBL

dn

46,XX,r(22)(p11q13.33)

acc. to MolGen: Subtel 22qter lost

GTG
MolGen

DD, DYS; Metachromatic leucodystrophy

 {1197}
RC/W-
22-
p13q13/
1-1

male/
prenatal

AF

?dn

46,XY,r(22)(p13q13)

GTG

 DD, DYS, TOP
 		{1, case RC22-168; 1117}
RC/W-
22-
p13q13/
1-2

female/
postnatal

PBL

?dn

46,XX,r(22)(p13q13)
Subtelomer 22qter absent

GTG
FISH

 DD, DYS 1, case RC22-166; 1120, case 6}
RC/W-
22-
p13q13.2/
1-1

female/
2y

PBL

?dn

46,XX,r(22)(p13q13.2)

dynamic mosaicism:
46,XX,r(22)[95]/45,XX,-22[4]/46,XX,r(22)var[1]

acc. to aCGH at 22q 7.9Mb loss and loss at 22q11.21 (hg19: 17,257,787-18,710,895)

GTG

aCGH 		DD, DYS
 		{57, case 14}
RC/W-
22-
p13q13.2/
1-2

male/
24y

PBL

?dn

46,XY,r(22)(p13q13.2)

dynamic mosaicism:
46,XY,r(22)[95.7]/45,XY,-22[4]/46,XY,r(22)var[0.3]

acc. to aCGH at 22q 7.2Mb loss

GTG

aCGH 		DD, DYS, dispigmentation {57, case 13}
RC/W-
22-
p13q13.2/
1-3

male/
24

PBL

?dn

46,XY,r(22)(p13q13.2)

dynamic mosaicism:
46,XY,r(22)[288]/46,XY,var(22)[1]/

45,XY,-22[11]

acc. to aCGH loss of ~7MB in 22qter

GTG

FISH

aCGH

DD, DYS, hypotonia, scoliosis, dispigmentation

 {1, case RC22-145; 78, case 13, 592, case 10; 1, case RC22-161, 1120, case 2}
RC/W-
22-
p13q13.2/
2-1

female/
2y

PBL

?dn

46,XX,r(22)(p13->q11.21::q11.21->q13.2)

dynamic mosaicism:
46,XX,r(22)[285]/46,XX,var(22)[2]/

45,XX,-22[13]

acc. to aCGH loss of ~7.5MB in 22qter and of ~1.5Mb in 22q11.21

GTG

FISH

aCGH

DD, DYS, hypotonia

 {1, case RC22-144; 78, case 16; 1, case RC22-162; 1120, case 1}
RC/W-
22-
p13q13.3/
1-1

female/
n.a.

PBL

?dn

46,XX,r(22)(p13q13.3)

dynamic mosaicism:

46,XX,r(22)[85]/47,XX,r(22)x2[2]/45,XX,-22[3]/46,XX[17]

GTG

 DD {595, case 39}
RC/W-
22-
p13q13.3/
1-2

female/
2y

PBL

dn

46,XX,r(22)(p13q13.3)

GTG

 growth retardation, microcephaly, DD, hypotonia {1, case RC22-41; 1068}
RC/W-
22-
p13q13.3/
1-3

male/
7y

PBL

?dn

46,XY,r(22)(p13q13.3)

Subtelomer 22qter absent

GTG

FISH

DD, microcephaly, DYS

 {1, case RC22-60; 1082}
 literature not accessible
RC/W-
22-
p13q13.3/
1-4

male/
7y

PBL

dn

46,XY,r(22)(p13q13.3)

Subtelomer 22qter absent

GTG

FISH

DD, growth retardation, DYS

 {1, case RC22-64; 1086; also included in 1089 (unclear which case)}
literature not accessible
RC/W-
22-
p13q13.31/
1-1

female/
7y

AF

PBL

?dn

46,XX,r(22)(p13q13.31)

dynamic mosaicism:

46,XX,r(22)[82]/46,XX,dr(22)[11]/45,XX,-22[7]

acc. to aCGH ~6Mb loss at 22qter

GTG

FISH

MolGen

DD, DYS, hypotonia

 {1, case RC22-65; 1088}
RC/W-
22-
p13q13.31/
1-2

female/
9y

PBL

dn

46,XX,r(22)(p13q13.31)

acc. to aCGH ~3.8Mb loss at 22qter

GTG

aCGH

DD, DYS

 {1, case RC22-153; 1114}
RC/W-
22-
p13q13.31/
1-3

male/
~0.3y

PBL

?dn

46,XY,r(22)(p13q13.31)

acc. to aCGH ~3.5Mb loss at 22qter

GTG

aCGH

DD, DYS, hypotonia, NF2 at ~1y

 {1, case RC22-160; 1118}
RC/W-
22-
p13q13.31/
1-4

female/
~0.3y

PBL

?dn

46,XX,r(22)(p13q13.31)

acc. to aCGH ~3.8Mb loss at 22qter

GTG

aCGH

DD, DYS, growth retardation, microcephaly

 {1, case RC22-164; 1120, case 4}
RC/W-
22-
p13q13.31/
1-5

female/
~0.3y

PBL

?dn

46,XX,r(22)(p13q13.31)

acc. to aCGH ~3.74Mb loss at 22qter

GTG

aCGH

DD, DYS, teratoid/ rhabdoid tumour

 {1138, case 2}
RC/W-
22-
p13q13.33/
1-1

female/
11y

PBL

?dn

46,XX,r(22)(p13q13.33)

dynamic mosaicism:
46,XX,r(22)[92]/45,XX,-22[5]/46,XX,r(22)var[3]

acc. to aCGH no loss in #22

GTG

aCGH 		DD, microcephaly, DYS, dispigmentation {57, case 12}
RC/W-
22-
p13q13.33/
1-2

female/
6y

PBL

?dn

46,XX,r(22)(p13q13.33)

dynamic mosaicism:

46,XX,r(22)[276]/46,XX,var(22)[9]/

45,XX,-22[15]

acc. to aCGH no loss or gain

GTG

FISH

aCGH 		DD, microcephaly, DYS {1, case RC22-144; 78, case 12; 1, case RC22-163; 1120, case 3}
RC/W-
22-
p13q13.33/
1-3

female/
n.a.

PBL

dn

46,XX,r(22)(p13q13.33)

acc. to aCGH at 22qter ~1.29Mb loss 

GTG

aCGH 		DD, DYS
 		{1108, case 26}
RC/W-
22-
p13q13.33/
1-4

male/
13y

PBL

dn

46,XY,r(22)(p13q13.33)

acc. to aCGH at 22qter ~0.15Mb loss 

GTG

aCGH 		DD, DYS
 		{1, case RC22-165; 1120, case 5}
RC/W-
22-
p13q13.33/
2-1

female/
n.a.

PBL

dn

46,XX,r(22)(p11->q12.3::q11->q13.2::
q12.3->q13.33)

acc. to aCGH ~0.5Mb loss at 22qter and ~18Mb dup at 22q11q12.3 and ~4.2Mb dup at 22q12.3–q13.2

GTG

aCGH 		DD, DYS
 		{1108, case 28}
RC/W-
22-
p12q11.1/
1-1

female/
n.a.

PBL

?dn

46,XX,r(22)(p12q11.1)

dynamic mosaicism:
46,XX,r(22)(p12->q11.1::p11.1->q11.1::q11.1->p12)[3]/

46,XX,der(22)(:q11.1->p12::p12->q11.1:)[2]/

46,XX,r(22)(::p12>q11.1::)[2]/

46,XX,r(22)(::p11.1->q11.1::p11.1->q11.1::)[1]

GTG

FISH

DD

 {541, case 23; 592, case 11}
RC/W-
22-
p12q13/
1-1

female/
~0.5y

PBL

?dn

46,XX,r(22)(p12q13)

dynamic mosaicism:

46,XX,r(22)[46]/46,XX,dr(22)[4]

Subtelomer 22qter absent

GTG

FISH

DD, growth retardation, DYS,

hypotonia

 {1, case RC22-61; 1081}
RC/W-
22-
p12q13/
1-2

male/
16y

PBL

?dn

 46,XY,r(22)(p12q13)

GTG

DD, DYS

 {1, case RC22-70; 1087, case 5}
RC/W-
22-
p12q13.32/
1-1

male/
~4y

PBL

?dn

46,XY,r(22)(p12q13.32)

acc. to FISH ~2.3Mb loss at 22qter

GTG

FISH

DD, microcephaly, DYS

 {1, case RC22-88; 1092}
RC/W-
22-
p11.2q12.3/
1-1

female/
16y

PBL

?dn

 46,XX,r(22)(p11.2q12.3)

GTG

 DD, DYS, edema {1, case RC22-137; 1106}
RC/W-
22-
p11.2q13/
1-1

male/
~2y

PBL

?dn

 46,XY,r(22)(p11.2q13)

GTG

 DD, heart defect {625, case 22-4}
RC/W-
22-
p11.2q13/
1-2

male/
3y

PBL

dn

 46,XY,r(22)(p11.2q13)

GTG

DD, DYS, hypotonia

 {1, case RC22-66; 1087, case 1}
RC/W-
22-
p11.2q13/
1-3

male/
35y

PBL

?dn

46,XY,r(22)(p11.2q13)

dynamic mosaicism:

46,XX,r(22)[80%]

GTG

DD, growth retardation, DYS, hypotonia

 {1, case RC22-67; 1087, case 2}
RC/W-
22-
p11.2q13/
1-4

female/
8y

PBL

dn

46,XX,r(22)(p11.2q13)

GTG

DD, DYS

 {1, case RC22-138, 1104}
RC/W-
22-
p11.2q13/
1-5

male/
8y

PBL

dn

46,XY,r(22)(p11.2q13)

GTG

DD, DYS

 {1, case RC22-193; 1129}
literature not accessible
RC/W-
22-
p11.2q13.2/
1-1

female/
newborn

PBL

?dn

 46,XY,r(22)(p11.2->q13.2::q13.1->q13.2: :q13.2->q13.2)
acc. to aCGH ~8.4Mb loss at 22qter and ~2.4b dup at 22q13.1q13.2 and ~0.8Mb dup at 22q13.2

GTG
aCGH

DD, DYS, microcephaly, hypotonia

 {1, case RC22-191; 1127}
RC/W-
22-
p11.2q13.3/
1-1

male/
25

PBL

?dn

 46,XY,r(22)(p11.2q13.3)

GTG

DD, DYS, microcephaly, seizures

 {1, case RC22-34; 231; 1061}
RC/W-
22-
p11.2q13.3/
1-2

female/
3y

PBL

?dn

 46,XX,r(22)(p11.2q13.3)

GTG

growth retardation, microcephaly, DD, hypotonia; at 3y leukemoid reaction

 {1, case RC22-42; 1067}
RC/W-
22-
p11.2q13.3/
1-3

male/
child

PBL

dn

 46,XY,r(22)(p11.2q13.3)

GTG

DD

 {1, case RC22-127; 1098}
literature not accessible
RC/W-
22-
p11.2q13.3/
1-4

male/
child

PBL

dn

46,XN,r(22)(p11.2q13.3)

Subtelomer 22qter absent

GTG

FISH

DD, hypotonia, microcephaly, DYS

 {1, case RC22-138; 1104}
RC/W-
22-
p11.2q13.3/
1-5

female/
child

PBL

?dn

46,XX,r(22)(p11.2q13.3)

22qter deletion suggested

GTG

NGS

DD, hypotonia, microcephaly, DYS, NF2

 {1135}
RC/W-
22-
p11.2q13.3/
1-6

male/
13y

PBL

?dn

 46,XY,r(22)(p11.2q13.3)

GTG

DD, DYS

 {1211}
RC/W-
22-
p11.2q13.3/
1-7

female/
4y

PBL

?dn

 46,XX,r(22)(p11.2q13.3)

GTG

DD, DYS

 {1212, case 1}
RC/W-
22-
p11.1q13.31/
1-1

male/
child

PBL

?dn

 46,XY,r(22)(p11.1q13.31)
dynamic mosaicism:
46,XY,r(22)[84]/45,XY,-22[16]
acc. to aCGH ~4.9Mb loss at 22qter

GTG

 DD, DYS, teratoid/
rhabdoid tumour
 		{1138, case 1}
RC/W-
22-
p11.2q13.33/
1-1

male/
child

PBL

?dn

 46,XY,r(22)(p11.2q13.33)
acc. to aCGH ~1.7Mb loss at 22qter

GTG
aCGH

DD

 {1130}
literature not accessible
RC/W-
22-
p11.1q13/
1-1

female/
4.5y

PBL

?dn

 46,XX,r(22)(p11.1q13)
dynamic mosaicism:
46,XX,r(22)[26]/45,XX,-22[3]

GTG

 DD, DYS
 		{625, case 22-3}
RC/W-
22-
p11.1q13.2/
1-1

male/
4.5y

PBL

?dn

 46,XY,r(22)(p11.1q13.32)
FISH - ARSA lost

GTG
FISH

 DD, growth retardation, DYS {625, case 22-2}
RC/W-
22-
p11.1q13.2/
1-2

female/
child

PBL

?dn

 46,XY,r(22)(p11.1->q13.31: :q13.31-> q13.2)
acc. to aCGH ~4.4Mb loss at 22qter and ~3Mb dup at 22q13.2q13.31

GTG
FISH
aCGH

 DD, growth retardation, DYS {1, case RC22-239; 1136}
RC/W-
22-
q11..1q13.31/
1-1

male/
prenatal

AF

?dn

 47,XY,r(22)(p11.2p11.1),
+r(22)(q11.1q13.31)
dynamic mosaicism

GTG
FISH

 DD, DYS, TOP {1, case RC22-143; 1109}