ChromosOmics - Database





                                                  - CHROMOSOME  20 -                                                

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
- microcephaly
- DYS = dysmorphic facial features
- retinal / macular pigmentation
- seizures - late onset possible
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots)

Ref 848 suggests correlation of cells with r(20) and age of onset of seizures
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-
20-
p1?3q13.?3/
1-1a, 1-1b, 1-1c
 		female/
54y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[31]/46,XX[67]/45,XX,-20[1.5]/46,XX,dr(20)[0.5] 		GTG normal, but two affetced children – r(20 in 66 to 88%
 {798}
RC/O-
20-
p1?3q13.?3/
1-2a, 1-2b 		female/
24y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[10]/46,XX[90] 		GTG seizures at 24y but normal intelligence
daughter and son with 40% of r(20) and early onset of seizures and DD		 {840}
RC/O-
20-
p1?3q13.?3/
1-3
 		female/
31y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[29%] 		GTG no seizures, IQ normal {863, case 1}
RC/O-
20-
p1?3q13.?3/
1-4
 		male/
21y 		PBL ?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[8%] 		GTG seizures at 21y
otherwise normal		 {865, case 1; 867, case 2}
RC/O-
20-
p1?3q13.?3/
1-5

female/

44y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[9%] 		GTG seizures at 44y
otherwise normal		 {865, case 5; 867, case 5}
RC/O-
20-
p1?3q13.?3/
1-6

female/

12y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[24%] 		GTG seizures at 12y
otherwise normal		 {865, case 33; 867, case 13}

 
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-
20-
p1?3q13.?3/
1-1

female/
26y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[22]/46,XX[78] 		solid staining DD, seizures {778, one case}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-2

male/
0.5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XY,r(20)[94]/46,XY[6] 		solid staining DD, growth retardation, microcephaly, DYS, seizures {789}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-3

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XY,r(20)[46]/45,XY,-20[4] 		GTG DD, growth retardation, microcephaly, seizures {790}
RC/W-
20-
p1?3q13.?3/
1-4

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XY,r(20)[43]/46,XY[57] 		GTG DD, growth retardation, DYS, seizures {791}
RC/W-
20-
p1?3q13.?3/
1-5

female/
21y

BM

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[90]/46,XX[9]/ 45,XX-20[1] 		GTG DD, seizures {792}
RC/W-
20-
p1?3q13.?3/
1-6 to 1-10

n.a./
n.a.

PBL

?dn

 46,XN,r(20)(p1?3q13.?3) GTG DD, growth retardation, microcephaly, seizures {793}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-11

male/
1y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XY,r(20)[21]/46,XY[3] 		GTG DD, growth retardation, microcephaly, seizures {794}
RC/W-
20-
p1?3q13.?3/
1-12

male/
27y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures {779, one case}
RC/W-
20-
p1?3q13.?3/
1-13

female/
newborn

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG DD, growth retardation, microcephaly, seizures {795}
RC/W-
20-
p1?3q13.?3/
1-14

female/
6y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG   seizures {788}
RC/W-
20-
p1?3q13.?3/
1-15

male/
15y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  DD, growth retardation, microcephaly, seizures {801}
RC/W-
20-
p1?3q13.?3/
1-16

male/
0.5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  DD, seizures {808, case 2, 809}
RC/W-
20-
p1?3q13.?3/
1-17

female/
~2y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, seizures {810}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-17

female/
8y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, seizures {811}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-16

female/
~6y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, DYS, seizures {812; 437, case 2}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-17

male/
8

PBL

dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[50]/46,XY[50] 		GTG seizures at 8y; afterwards DD {814, case 1}
RC/W-
20-
p1?3q13.?3/
1-18

female/
5y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[48]/46,XX[52] 		GTG seizures at 5y; afterwards DD {814, case 2}
RC/W-
20-
p1?3q13.?3/
1-19

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {815, case 1}
RC/W-
20-
p1?3q13.?3/
1-20

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {815, case 2}
RC/W-
20-
p1?3q13.?3/
1-21

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {818}
RC/W-
20-
p1?3q13.?3/
1-22

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 11y; afterwards DD {819, case 1,
 823; 834}
RC/W-
20-
p1?3q13.?3/
1-23

female/
3y

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures at 3y; afterwards DD {819, case 2; 823; 834}
RC/W-
20-
p1?3q13.?3/
1-24

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG DD from 11y onwards {819, case 3; 823; 834}
RC/W-
20-
p1?3q13.?3/
1-25

female/
8y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 8y; afterwards DD {819, case 4;
823; 834}
RC/W-
20-
p1?3q13.?3/
1-26

female/
6y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

 GTG DD, seizures from birth, microcephaly, growth retardation, mild DYS {821}
RC/W-
20-
p1?3q13.?3/
1-27

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {824; 1216}
RC/W-
20-
p1?3q13.?3/
1-28

male/
10y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  seizures at 10y; afterwards DD {826; 1217}
RC/W-
20-
p1?3q13.?3/
1-29

male/
5y

PBL

dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures; DYS, micrognathia {829}
RC/W-
20-
p1?3q13.?3/
1-30 to 43

9 male, 5 female/
n.a.

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  seizures {827; 831}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-44

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 4y; afterwards DD {830, case 2}
RC/W-
20-
p1?3q13.?3/
1-45

male/
8y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures {830, case 3}
RC/W-
20-
p1?3q13.?3/
1-46

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures at 5y; afterwards DD {830, case 4}
RC/W-
20-
p1?3q13.?3/
1-47

male/
6y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures {830, case 5}
RC/W-
20-
p1?3q13.?3/
1-48 to 1-49

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {831, 2 cases}
RC/W-
20-
p1?3q13.?3/
1-50

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[84]/45,XX,-20[3]

GTG seizures at 17y; afterwards DD {832}
RC/W-
20-
p1?3q13.?3/
1-51

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {833, 1 case}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-52

male/
newborn

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures, hypotonia at birth; at ~2y DD, DYS, microcephaly {837, case 0}
RC/W-
20-
p1?3q13.?3/
1-53

male/
6y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[43% 		GTG seizures at 6y; afterwards DD {837, case 1}
RC/W-
20-
p1?3q13.?3/
1-54

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)
dynamic mosaicism:

46,XY,r(20)[77%]

 GTG seizures at 5y; afterwards DD {837, case 2}
RC/W-
20-
p1?3q13.?3/
1-55

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism:

46,XX,r(20)[40%] 		GTG seizures at 5y; afterwards DD {837, case 3}
RC/W-
20-
p1?3q13.?3/
1-56

male/
5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[80% 		GTG seizures at 5y; afterwards DD {837, case 4}
RC/W-
20-
p1?3q13.?3/
1-57

male/
8y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[22% 		GTG seizures at 8y; afterwards DD {837, case 5}
RC/W-
20-
p1?3q13.?3/
1-58

male/
9y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures {838}
RC/W-
20-
p1?3q13.?3/
1-59

male/
4y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures; died due to a seizure attack at 13y {841}
RC/W-
20-
p1?3q13.?3/
1-60

female/
7.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG

seizures at ~7.5y; afterwards DD;

dispigmentation

unproportionate growth (delay lof one half body side) 		{842, case 1; ?844}
RC/W-
20-
p1?3q13.?3/
1-61

female/
~10y

PBL
fibro

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53]/46,XX[47] 		GTG seizures at ~10y {842, case 2; ?844}
RC/W-
20-
p1?3q13.?3/
1-62

female/
~35y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures {851}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-63

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53]/46,XX[47] 		GTG seizures at 5y {852}
RC/W-
20-
p1?3q13.?3/
1-64

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[12]/46,XX[38] 		GTG seizures at 9y; afterwards DD {853}
RC/W-
20-
p1?3q13.?3/
1-65

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 4y; afterwards DD {855, case 1}
RC/W-
20-
p1?3q13.?3/
1-66

male/
8y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures at 8y; afterwards DD {855, case 2}
RC/W-
20-
p1?3q13.?3/
1-67

female/
66y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[18]/45,XX,-20[4]/46,XX,t(3;4)[8]/46,XX[70] 		GTG seizures {855, case 4}
RC/W-
20-
p1?3q13.?3/
1-68

male/
4y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[13%] 		GTG seizures at 4y; afterwards DD {855, case 5}
RC/W-
20-
p1?3q13.?3/
1-69

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[13% 		GTG mild DYS; seizures at 5y; afterwards DD {855, case 6}
RC/W-
20-
p1?3q13.?3/
1-70

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism

 GTG seizures {856}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-71

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[25]/46,XY[75] 		GTG seizures at 5y; afterwards DD {857, case 1}
RC/W-
20-
p1?3q13.?3/
1-71

male/
~2.5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[6]/46,XY[94] 		GTG seizures at 2.5y; afterwards DD {857, case 2}
RC/W-
20-
p1?3q13.?3/
1-72

male/
10y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[40]/46,XY[60] 		GTG seizures at 10y; afterwards DD {857, case 3}
RC/W-
20-
p1?3q13.?3/
1-73

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[33%] 		GTG seizures at 6y; afterwards DD {863, case 2}
RC/W-
20-
p1?3q13.?3/
1-74

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53%] 		GTG seizures at 9y; afterwards DD {863, case 3}
RC/W-
20-
p1?3q13.?3/
1-75

female/
10y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[42%] 		GTG seizures at 10y; afterwards DD {865, case 2; 867, case 1}
RC/W-
20-
p1?3q13.?3/
1-76

female/
12y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[7%] 		GTG seizures at 12y; afterwards DD {865, case 3; 867, case 4}
RC/W-
20-
p1?3q13.?3/
1-77

male/
17y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[71%] 		GTG seizures at 17y; afterwards DD {865, case 4; 867, case 3}
RC/W-
20-
p1?3q13.?3/
1-78

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[40%] 		GTG seizures at 9y; afterwards DD {865, case 6; 867, case 7
RC/W-
20-
p1?3q13.?3/
1-79

female/
14y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[34%] 		GTG seizures at 14y; afterwards DD {865, case 7; 867, case 6}
RC/W-
20-
p1?3q13.?3/
1-80

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[15%] 		GTG seizures at 17y; afterwards DD {865, case 8; 867, case 8}
RC/W-
20-
p1?3q13.?3/
1-81

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[60%] 		GTG seizures at 9y; afterwards DD {865, case 10; 867, case 11}
RC/W-
20-
p1?3q13.?3/
1-82

female/
prenatal

AF/
PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[30%] 		GTG seizures, DYS {865, case 11; 867, case 10}
RC/W-
20-
p1?3q13.?3/
1-83

male/
12y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[55%] 		GTG seizures at 12y; afterwards DD {865, case 12; 867, case 12}
RC/W-
20-
p1?3q13.?3/
1-84

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[15%] 		GTG DYS, seizures {867, case 9}
RC/W-
20-
p1?3q13.?3/
1-85

male/
17y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures {868, case 1}
RC/W-
20-
p1?3q13.?3/
1-86

male/
6.5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures {868, case 2}
RC/W-
20-
p1?3q13.?3/
1-87

female/
newborn

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures, DYS {868, case 3}
RC/W-
20-
p1?3q13.?3/
1-88

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures {870}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-89 to 1-101

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {874, 12 cases}
RC/W-
20-
p1?3q13.?3/
1-102

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[30%] 		GTG seizures at 5y; afterwards DD {876, case 2}
RC/W-
20-
p1?3q13.?3/
1-103

female/
51.y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[80%] 		GTG seizures at 1.5y; afterwards DD {876, case 3}
RC/W-
20-
p1?3q13.?3/
1-104

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[6%] 		GTG seizures at 5y; afterwards DD {876, case 9}
RC/W-
20-
p1?3q13.?3/
1-105

male/
14y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[5%] 		GTG seizures at 14y; afterwards DD {876, case 12}
RC/W-
20-
p1?3q13.?3/
1-106

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[25%] 		GTG seizures at 9y; afterwards DD {876, case 15}
RC/W-
20-
p1?3q13.?3/
1-105

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[23%] 		GTG seizures at 7y; afterwards DD {876, case 16}
RC/W-
20-
p1?3q13.?3/
1-106

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[12%] 		GTG seizures at 11y; afterwards DD {876, case 18}
RC/W-
20-
p1?3q13.?3/
1-107

male/
8y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[16%] 		GTG seizures at 8y; afterwards DD {876, case 19}
RC/W-
20-
p1?3q13.?3/
1-108

male/
2y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[25%] 		GTG seizures at 2y; afterwards DD {876, case 21}
RC/W-
20-
p1?3q13.?3/
1-109

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[14%] 		GTG seizures at 11y; afterwards DD {876, case 23}
RC/W-
20-
p1?3q13.?3/
1-110

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[41%] 		GTG seizures at 4y; afterwards DD {876, case 24}
RC/W-
20-
p1?3q13.?3/
1-111

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 17y {878}
RC/W-
20-
p1?3q13.?3/
1-112

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {879}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-113

female/
~0.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG DD, seizures {884, case 2}
RC/W-
20-
p1?3q13.?3/
1-114

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[88%] 		GTG DD, seizures {886, case 1}
RC/W-
20-
p1?3q13.?3/
1-115

male/
6y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[63%] 		GTG seizures, DD {886, case 2}
RC/W-
20-
p1?3q13.?3/
1-116

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures, DD {887}
RC/W-
20-
p1?3q13.?3/
1-117 to 1-159

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {889} 42 cases
RC/W-
20-
p1?3q13.?3/
1-160

female/
10y

PBL

?dn

46,XX,t(1;12)(q21;q11),
r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[14]/46,XX[9] 		GTG seizures, DD {890}
RC/W-
20-
p1?3q13.?3/
1-161

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[68%] 		GTG
 		seizures at 5y; afterwards DD {892, case 2}
RC/W-
20-
p1?3q13.?3/
1-162

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[48%] 		GTG seizures at 11y {892, case 3}
RC/W-
20-
p1?3q13.?3/
1-163

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[83%] 		GTG seizures at 6y; afterwards DD {892, case 4}
RC/W-
20-
p1?3q13.?3/
1-164

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {861, 1 case}
RC/W-
20-
p1?3q13.?3/
1-165

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {843, 1 case}
RC/W-
20-
p1?3q13.?3/
1-166

female/
4.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[17%] 		GTG
 growth retardation, mild DYS, seizures; DD {892, case 1}
RC/W-
20-
p1?3q13.?3/
1-167

male/
6y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XX,r(20)[5-95]/45,XX,-20[5-95] 		GTG
 DD, seizures {1196}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-168 to 1-214

male and female/
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1221, 47 cases}
RC/W-
20-
p1?3q13.?3/
1-215

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1236}
RC/W-
20-
p1?3q13.?3/
1-216

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1239}
RC/W-
20-
p13q13/
1-1

male/
~1.3y

PBL

?dn

 46,XY,r(20)(p13q13) GTG DD, growth retardation, microcephaly, seizures {796}
RC/W-
20-
p13q13/
1-2

n.a./
4y

PBL

?dn

 46,XN,r(20)(p13q13)
dynamic mosaicism 		GTG DD, seizures {797}
literature not accessible
RC/W-
20-
p13q13/
1-3

female/
11y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism: 46,XX,r(20)/46,XX 		GTG DD, seizures {802}
RC/W-
20-
p13q13/
1-4

female/
12y

PBL

dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[80] 		GTG seizures at 12y; afterwards DD {828, case 1}
RC/W-
20-
p13q13/
1-5

female/
15y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[80] 		GTG seizures at 15y; afterwards DD {828, case 2}
RC/W-
20-
p13q13/
1-6

female/
10y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70] 		GTG seizures at 10y {880}
RC/W-
20-
p13q13.3/
1-1

male/
14y

PBL

?dn

 46,XY,r(20)(p13q13.3) GTG DD, growth retardation, microcephaly, seizures {799}
RC/W-
20-
p13q13.3/
1-2

male/
~0.5y

PBL

?dn

46,XY,r(20)(p13q13.3)
dynamic mosaicism: 46,XY,r(20)[93]/45,XY,-20[7]

telomeres lost 		GTG
FISH
 		DD, growth retardation, microcephaly, seizures {800}
RC/W-
20-
p13q13.3/
1-3

n.a./
n.a.

PBL

?dn

 46,XN,r(20)(p13q13) GTG
 		seizures {805}
literature not accessible
RC/W-
20-
p13q13.3/
1-4

n.a./
~2.25y

PBL

?dn

 46,XN,r(20)(p13q13) GTG
 		seizures {813}
literature not accessible
RC/W-
20-
p13q13.3/
1-5

female/
3y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[26]/46,XX[4] 		GTG DD, seizures {807; 808, case 1}
RC/W-
20-
p13q13.3/
1-6

female/
4y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[10]/45,XX,-20[2]/46,XX,dr(20)[1]/46,XX[87] 		GTG seizures at 4y; afterwards DD {814, case 3}
RC/W-
20-
p13q13.3/
1-7

male/
~1y

PBL

?dn

 46,XY,r(20)(p13q13.3) GTG DD, seizures {820}
RC/W-
20-
p13q13.3/
1-8

male/
12y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[90]/46,XY,dr(20)[4]/

46,XX,var(20)[6] 		GTG DD, seizures {822}
RC/W-
20-
p13q13.3/
1-9

male/
8y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[2]/46,XY[28] 		GTG seizures at 8y; afterwards DD {825}
RC/W-
20-
p13q13.3/
1-10

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[11]/46,XX[9] 		GTG growth retardation, seizures at 6y; afterwards DD {862}
RC/W-
20-
p13q13.3/
1-11

male/
3y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[23]/46,XY[25] 		GTG seizures at 3y; afterwards DD {866}
literature not accessible
RC/W-
20-
p13q13.3/
1-12

female/
child

PBL

dn

46,XX,r(20)(p13q13.3)

 GTG seizures, DD {869}
literature not accessible
RC/W-
20-
p13q13.3/
1-13

female/
7y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[23]/46,XX[6]/45,XX,-20[1] 		GTG seizures at 7y; afterwards DD {875}
RC/W-
20-
p13q13.3/
1-14

female/
15y

PBL

?dn

46,XX,r(20)(p13q13.3)

Subtelomer 20pter and 20qter present

acc. to aCGH no loss in 20

but in 16p13.11 		GTG seizures at 15y; afterwards DD {877}
RC/W-
20-
p13q13.3/
1-15

male/
9y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[12]/46,XX[88] 		GTG DD, seizures {884, case 1}
RC/W-
20-
p13q13.3/
1-16

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[15]/46,XX[35] 		GTG seizures, DD {873}
RC/W-
20-
p13q13.3/
1-17

female/
11y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[34%] 		GTG microcephaly, growth retardation, seizures at 12y; DD at 11y {871}
RC/W-
20-
p13q13.3/
1-18

male/
2.75y

PBL

?dn

46,XX,r(20)(p13q13.3)

 GTG   seizures  {899}
RC/W-
20-
p13q13.33/
1-1

male/
~2y

PBL

?dn

46,XY,r(20)(p13q13.33)

telomeres lost
 Subtelomer 20pter present and 20qter absent acc. to aCGH in 20q loss; size not provided 		GTG
FISH
aCGH
 		slight DYS, seizures at 2y; afterwards DD {816; 848, case 25}
RC/W-
20-
p13q13.33/
1-2 to 1-3

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)[85]/45,XN,-20[5]/46,XX,dr(20)[10]

Subtelomer 20pter present and 20qter absent

acc. to aCGH in 20q loss; size not provided 		GTG
FISH
aCGH
 		seizures  {848, cases 23 and 28}
RC/W-
20-
p13q13.33/
2-1

female/

3y

PBL

?dn

46,XX,r(20)(p13q13.33)

acc. to aCGH in 20p ~0.7Mb loss 		GTG
aCGH
 		seizures {859}
RC/W-
20-
p13q13.33/
3-1

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13->q13.33::q13.32->q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter and 20qter absent

acc. to aCGH in 20p ~0.2Mb and in 20q ~0.8Mb loss and dup in q13.32q13.33 fo ~9Mb 		GTG
FISH
aCGH
 		seizures {848, case 27}
RC/W-
20-
p13q13.33/
3-2

female/

prenatal

AF

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[44]/45,XX,-20[6]

acc. to aCGH in 20p ~0.6Mb and in 20q ~0.78Mb loss 		GTG
aCGG 		Maternal anxiety, TOP {849}
RC/W-
20-
p13q13.33/
4-1

male/
9y

PBL

dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism: 46,XY,r(20)[16]/46,XY[14] 		GTG growth retardation, seizures {803; 804, case 2}
RC/W-
20-
p13q13.33/
4-2

female/
14y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[4]/46,XX[16] 		GTG   seizures {804, case 1}
RC/W-
20-
p13q13.33/
4-3

female/
21y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[5]/46,XX[15] 		GTG   seizures {804, case 3}
RC/W-
20-
p13q13.33/
4-4

female/
28y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[8]/46,XX[12] 		GTG   seizures {804, case 4}
RC/W-
20-
p13q13.33/
4-5

female/
31y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[36] 		GTG   seizures {804, case 5}
RC/W-
20-
p13q13.33/
4-6

male/
25y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism: 46,XY,r(20)[3]/46,XY[27] 		GTG   seizures {804, case 6}
RC/W-
20-
p13q13.33/
4-7a and 4-7b

male/
6y

PBL

mat

46,XY,r(20)(p13q13.33)

dynamic mosaicism: 46,XY,r(20)[83]/46,XY[17]

telomere(s) present
acc. to aCGH no loss

GTG

FISH
aCGH
 		growth retardation, seizures, as in mother {806, cases 1, 2; 844; 863, cases 4-5}
RC/W-
20-
p13q13.33/
4-8

male/
21y

PBL
fibros

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism: 46,XY,r(20)[13]/46,XY[67]

telomere(s) present
acc. to aCGH no loss
GTG
aCGH
 		seizures, onset at 21y {806, case 3; 844; 863 case 6}
RC/W-
20-
p13q13.33/
4-9

female/
36y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[84]/45,XX,-20[3] 		GTG seizures at 17y; afterwards DD {817}
RC/W-
20-
p13q13.33/
4-10

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[15-40]/46,XX[60-85]

Subtelomer pter and qter present; telomeres present 		GTG
FISH 		seizures at 5y; afterwards DD; hypotonia, scoliosis {835}
RC/W-
20-
p13q13.33/
4-11

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33) dynamic mosaicism:
46,XX,r(20)[~20]/46,XX,dr(20)[8]/

46,XX[~65]/45,XX,-20[7]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures at 5y; afterwards DD {839}
RC/W-
20-
p13q13.33/
4-12

female/
4y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[26]/46,XX[74]

acc. to aCGH no loss 		GTG
aCGH 		seizures at 4y; afterwards DD {842, case 3; 844}
RC/W-
20-
p13q13.33/
4-13

female/
12y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[~40]/46,XX[~60]

acc. to aCGH no loss 		GTG
aCGH 		seizures  {844, case BV}
RC/W-
20-
p13q13.33/
4-14

female/
10y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[34]/46,XX[66]
in fibros only in 5% r(20)

acc. to aCGH no loss 		GTG
aCGH 		seizures {844, case PE}
RC/W-
20-
p13q13.33/
4-15

female/
prenatal

AF

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70]

acc. to aCGH no loss 		GTG
aCGH 		n.a. {844, case MM}
RC/W-
20-
p13q13.33/
4-16

female/
5y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[34]/46,XX[66]

In fibros r(20) in 8%

Subtelomer 20pter and 20qter present 		GTG
FISH

seizures at 5y; afterwards DD;

dispigmentation

scoliosis 		{846}
RC/W-
20-
p13q13.33/
4-17 to 4-39

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)[3.7-90]/46,XN[10-96.3]/45,XX,-20[0-16]

Subtelomer 20pter and 20qter present

acc. to aCGH no loss

GTG

FISH

aCGG 		  seizures {848, cases 1 to 21, 24}
RC/W-
20-
p13q13.33/
4-40

female/
n.a.

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[45]/45,XX,-20[90]

Subtelomer 20pter and 20qter present 		GTG
aCGH 		seizures  {595, case 34}
RC/W-
20-
p13q13.33/
4-41

male/
13y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[15]/46,XY[35]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures, DD {854}
RC/W-
20-
p13q13.33/
4-42

female/
15y

PBL

dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[40]/46,XX[20]

Acc. to aCGH dup in 20q11.21q22.21 (unclear if in r(20) or #20 		GTG
FISH
aCGH
 		seizures {858}
RC/W-
20-
p13q13.33/
4-43

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[22]/46,XX[60]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures at 5y; afterwards DD {860, case 1}
RC/W-
20-
p13q13.33/
4-44

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[73]/46,XX[27]

acc. to aCGH no loss

GTG
aCGH
 		seizures, DD {891, case 2}
RC/W-
20-
p13q13.33/
4-45

female/
9y

PBL

?dn

46,XX,r(20)(p13q13.33)

Subtelomer 20pter and 20qter present 		GTG
FISH
 		seizures at 9y {881}
RC/W-
20-
p13q13.33/
4-46

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[84]/46,XX[16] 		GTG
aCGH
 		seizures, DD {882, case 1}
RC/W-
20-
p13q13.33/
4-47

female/
2y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[70]/46,XX[30] 		GTG
aCGH
 		seizures {882, case 2}
RC/W-
20-
p13q13.33/
4-48

female/
12y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[78]/45,XX,-20[2] 		GTG
aCGH
 		seizures {882, case 3}
RC/W-
20-
p13q13.33/
4-49

female/
13y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70] 		GTG
aCGH
 		seizures {882, case 4}
RC/W-
20-
p13q13.33/
4-50

female/
9y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism

 GTG
aCGH
 		seizures {882, case 5}
RC/W-
20-
p13q13.33/
4-51

female/
4y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[44]/46,XY[56] 		GTG
aCGH
 		seizures {882, case 6}
RC/W-
20-
p13q13.33/
4-52

female/
2y

PBL

mat

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[50]/46,XX[50] 		GTG
MolGen

seizures at 2y.

mother with seizures at 20y and r(20) in 12% of PBL 		{883}
RC/W-
20-
p13q13.33/
4-53

male/
7y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[62]/46,XY[38] 		GTG seizures at 7y; afterwards DD {872}
RC/W-
20-
p13q13.33/
4-54

male/
9y

PBL

?dn

46,XY,r(20)(p13q13.33)

acc. to aCGH no loss 		GTG
aCGH 		seizures, DD {891, case 1}
RC/W-
20-
p13q13.33/
4-55 to 1-57

n.a./
postnatal

PBL

dn

46,XX,r(20)(p13q13.33)

acc. to aCGH no loss 		GTG
FISH
aCGH
 no details provided {1099, cases 27-30}
RC/W-
20-
p13q13.33/
4-58

male/
19y

PBL

?dn

46,XY,r(20)(p13q13.33)

acc. to aCGH no loss

dynamic mosaicism:

46,XY,r(20)[51]/46,XY[35]/45,XY,-20[4] 		GTG
FISH
aCGH
 seizures, DD {1231}
RC/W-
20-
p13q13.33/
5-1

female/

21y

PBL

dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[50]/46,XX,dr(20)[25]/ 46,XX[25]

Subtelomer 20pter and 20qter absent 		GTG
FISH
 		growth retardation, DYS, seizures at 5y; afterwards DD {836}
RC/W-
20-
p13q13.33/
5-2

n.a./

n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter and 20qter absent

acc. to aCGH in 20p ~2.5Mb and in 20q ~0.8Mb loss

GTG

FISH

aCGG 		seizures  {848, case 22}
RC/W-
20-
p13q13.33/
5-3

male/

6y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[16%]

Subtelomer 20pter and 20qter absent

GTG

FISH

aCGG 		seizures at 6y; afterwards DD {855, case 3}
RC/W-
20-
p13q13.33/
6-1

female/

2.7y

PBL

?dn

46,XX,r(20)(p13->q13.33::q13.33->q13.33)

acc. to aCGH loss of ~1.4Mb in 20q and gain of 0.3Mb in 20q13.33 		GTG
aCGH

seizures,

dispigmentation 		{888}
RC/W-
20-
p13q13.33/
7-1

female/

13y

PBL

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[77]/46,XX[23]

acc. to aCGH in 20p ~1.8Mb loss 		GTG
aCGH

seizures,

dispigmentation 		{847}
RC/W-
20-
p13q13.33/
8-1

n.a./

n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter absent and 20qter present

acc. to aCGH in 20p loss; size not provided; and six additional duplications throughout the chromosome 		GTG
FISH
aCGH 		 seizures {848, case 26}
RC/W-
20-
p12q13.2/
1-1a and 1-1b

female/
~0.8y

PBL

?dn

46,XX,r(20)(p12q13.2)

dynamic mosaicism:
46,XX,r(20)[5-95]/45,XX,-20[5-95] 		GTG twins: DD, growth retardation, DYS, seizures {1195}


                                   Ref 845 – most likely same patients as in 806, 843 and 844; Refs 850 and 885 = reviews on r(20)