ChromosOmics - Database





                                                  - CHROMOSOME  18 -                                                

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
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots), hypotonia, micrognathia, seizures

Edwards syndrome (theoretically) possible in combination with RC-18

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-
18-
p11.?3/
1-1
 		male/
4y
 		PBL
fibros 		?dn

46,XY,r(18)(p11.?3q2?3)

dynamic mosaicism: blood: 46,XY,r(18)[20%]/46,XY[80%]

fibros  - no ring		 GTG almost normal {672, twin II}
RC/O-
18-
p11.?3/
1-2a, 1-2b and 1-2c
 		n.a./
adult 		PBL
fibros 		?dn

46,XN,r(18)(p11.?3q2?3)

GTG

normal parent

Transmission to two normal children 		{677}
literature not accessible
RC/O-
18-
p11.?3/
1-3a ad 1-3b
 		female/
~35y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

GTG

DD, otherwise normal;

Son with same r(18) affected		 {678}
RC/O-
18-
p11.?3/
1-4a and 1-4b
 		female/
adult 		PBL
fibros 		?dn

46,XX,r(18)(p11.?3q2?3)

dynamic mosaicism: 46,XX,r(18)/46,XX 		GTG

normal;

Son with same r(18) in 100% of the cells, affected 		{688}
RC/O-
18-
p11.?3/
1-5
 		female/
9.5y 		PBL ?dn

46,X,r(18)(p11.?3q2?3)

dynamic mosaicism:

45,X[17]/46,X,+r(18)[17]/47,XX,+18[55] 		GTG slight DYS, otherwise normal {733}
literature not accessible
RC/O-
18-
p11/
1-1
 		male/
adult 		PBL ?dn 46,XY,r(18)(p11q22)
dynamic mosaicism:
46,XY,r(21)[9]/46,XY,del(21)(q22.3)[4]/46,XY[12] 		GTG normal apart from infertility, oligospermia {931, case 10}
RC/O-
18-
p11/
2-1
 		female/
5y 		PBL ?dn 46,XX,r(18)(p11q23) GTG normal apart from growth retardation {708}
literature not accessible
RC/O-
18-
p11.3/
1-1
 		female/
22y		 PBL ?dn

46,XX,r(18)(p11.3q23)

dynamic mosaicism:

46,XX[36]/46,XX,r(18)[14] 		GTG slight DD, otherwise normal {738}
RC/O-
18-
p11.3/
1-2
 		male/
13y
 		PBL ?dn 46,XY,r(18)(p11.3q23) GTG ‚only minor symptoms‘ {670}
RC/O-
18-
p11.3/
1-3
 		male/
13y
 		PBL ?dn 46,XY,r(18)(p11.3q23) GTG ‚only minor symptoms‘ {670}
RC/O-
18-
p11.21/
1-1
 		female/
27y

PBL

fibros 		?dn

46,XX,r(18)(p11.21->q21.33)

dynamic mosaicism:
46,XX,r(18)(p11.21->q21.33)[8]/
46,XX,del(18)(pter->q21.33)[41]/

46,XX,der(18)(pter->q21.33::p11.21->pter)[1]
Subtelomer 18pter and 18qter absent

 GTG
FISH
 		cleft palate {731}

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-
18-
p11.?3q2?3/
1-1
 		female/
child 		fibros ?dn

46,XX,r(18)(p11.?3q2?3)

dynamic mosaicism: ~30% 		Solid staining DD, microcephaly, micrognathia, growth retardation, DYS {628}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-2
 		female/
5y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

 Solid staining DD, growth retardation, DYS {646}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-3
 		male/
13y 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, growth retardation, DYS {634}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-4
 		female/
child 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

dynamic mosaicism: ~20%

– ring size different		 Solid staining DD, growth retardation, DYS {647}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-5
 		male/
newborn 		PBL dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, growth retardation, DYS {629}
RC/W-
18-
p11.?3q2?3/
1-6
 		male/
newborn 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

dynamic mosaicism – ring size different		 Solid staining DD, microcephaly, growth retardation, DYS {692}
RC/W-
18-
p11.?3q2?3/
1-7
 		male/
10y 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, micrognathia, growth retardation, DYS {630}
RC/W-
18-
p11.?3q2?3/
1-8
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, growth retardation, DYS {631}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-10
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) Solid staining DD, microcephaly, growth retardation, DYS {632}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-11
 		female/
14y 		PBL, fibro ?dn

46,XX,r(18)(p11.?3q2?3)

 Solid staining DD, growth retardation, DYS {633, 635, 636}
RC/W-
18-
p11.?3q2?3/
1-12
 		male/
n.a. 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, micrognathia, growth retardation, DYS {637}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-13a and 1-13b
 		female/
12y 		PBL, fibro mat

46,XX,r(18)(p11.?3q2?3)

 Solid staining Mother and daughter: DD, growth retardation, DYS {638; 642; 717, case 2; 718, cases 9 and 10}
RC/W-
18-
p11.?3q2?3/
1-14
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) Solid staining DD, microcephaly, growth retardation, DYS {639}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-15
 		female/
12y 		PBL, fibro ?dn

46,XX,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, growth retardation, DYS {640}
RC/W-
18-
p11.?3q2?3/
1-16
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, growth retardation, DYS {693}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-17
 		female/
11y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)
dynamic mosaicism: 46,XX,r(18)[71]/45,XX-18[12]/46~47,r var[16]

 Solid staining DD, microcephaly, growth retardation, DYS {694, case 1}
RC/W-
18-
p11.?3q2?3/
1-18
 		female/
19y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)
 dynamic mosaicism:

46,XX,r(18)[70]/ 46~47XX,r var[7]		 Solid staining DD, microcephaly, growth retardation, DYS, seizures {694, case 2}
RC/W-
18-
p11.?3q2?3/
1-19
 		female/
6y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

 GTG DD, microcephaly, growth retardation, DYS, seizures {641}
literature not accessible
RC/W-
18-
p11.?3q2?3/
 1-20
 		female/
6y 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS, seizures {695}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-21
 		male/
~0.1y 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) Solid staining DD, microcephaly, micrognathia, growth retardation, DYS {696}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-22
 		female/
6y 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) Solid staining DD, microcephaly, growth retardation, DYS, seizures {697}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-23
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {643, case 1}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-24
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {643, case 2}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-25
 		male/
10y 		PBL, fibros ?dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, micrognathia, growth retardation, DYS {644}
RC/W-
18-
p11.?3q2?3/
1-26
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {645}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-27
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {648}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-28
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {649, case 2}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-29
 		female/
31y 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {650; 671; 698}
RC/W-
18-
p11.?3q2?3/
1-30
 		female/
12.5y 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {651}
RC/W-
18-
p11.?3q2?3/
1-31
 		female/
newborn 		PBL dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS, seizures {652}
RC/W-
18-
p11.?3q2?3/
1-32
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {653}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-33
 		n.a./
n.a. 		?fibros ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {654}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-34
 		female/
10.75y 		PBL, fibros ?dn

46,XX,r(18)(p11.?3q2?3)
dynamic mosaicism:

Blood: 46,XX,r(18)[87]/45,XX,-18[12]
fibros: 46,XX,r(18)[84]/45,XX,-18[5]/47,XX,r(18)x2[2]		 GTG DD, microcephaly, growth retardation, DYS {655}
RC/W-
18-
p11.?3q2?3/
1-35
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {656}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-36
 		female/
~0.5y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)
dynamic mosaicism:

46,XX,r(18)[39]/45,XX,-18[1]		 GTG DD, microcephaly, growth retardation, DYS {658}
RC/W-
18-
p11.?3q2?3/
1-37
 		female/
child 		PBL dn

46,XX,r(18)(p11.?3q2?3)
dynamic mosaicism:

Blood: 46,XX,r(18)[87]/45,XX,-18[12]
fibros: 46,XX,r(18)[84]/45,XX,-18[5]/47,XX,r(18)x2[2]		 GTG DD, microcephaly, growth retardation, DYS {659}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-38
 		female/
child 		PBL dn

46,XX,r(18)(p11.?3q2?3)

 GTG DD, microcephaly, growth retardation, DYS {662}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-39
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 GTG DD, microcephaly, growth retardation, DYS {664}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-40
 		female/
child 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {665}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-41
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {666}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-42
 		n.a./
child 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {656}
no details in paper
RC/W-
18-
p11.?3q2?3/
1-43
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {668}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-44
 		male/
4y 		PBL, fibros ?dn

46,XY,r(18)(p11.?3q2?3)
dynamic mosaicism:

blood: 46,XY,r(18){20%]/46,XY[80%]

fibros  - 50% with ring		 GTG DD, microcephaly, growth retardation, DYS {672, twin II}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-45
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {673}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-46
 		male/
n.a. 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {675}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-47
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {676}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-48
 		female/
child 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {679}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-49
 		male/
4y 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {680}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-50
 		n.a./
4y 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3)
dynamic mosaicism:
46,XN,r(18)[90]/46,XN,18p+[10]		 GTG DD, microcephaly, growth retardation, DYS {681, case EB}
RC/W-
18-
p11.?3q2?3/
1-51
 		female/
~0.5y 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS {682}
RC/W-
18-
p11.?3q2?3/
1-52
 		male/
3.5y 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {684}
RC/W-
18-
p11.?3q2?3/
1-53
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {686, case 2}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-54
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {686, case 3}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-55
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {689}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-56
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {582}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-57 to 1-60
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {578, 4 cases}
RC/W-
18-
p11.?3q2?3/
1-61 to 1-63
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {586, 3 cases}
RC/W-
18-
p11.?3q2?3/
1-64
 		male/
18y 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, microcephaly, seizures, DYS {702, case 5}
RC/W-
18-
p11.?3q2?3/
1-65
 		male/
child 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS {703}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-66
 		male/
newborn
 		PBL ?dn
 		46,XY,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {704}
literature not accessible
RC/W-
18-
p11.?3q2?3/
 1-67
 		prenatal AF ?dn

46,XX,r(18)(p11.?3q2?3)

dynamic mosaicism:
46,XX,r(18)[21]/45,XX,-18[5]/46,XX,r(18)var[1]		 GTG
FISH
 		DD, growth retardation, DYS, TOP {705}
RC/W-
18-
p11.?3q2?3/
1-68
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {718, case 8}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-69
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG
FISH
 		DD, microcephaly, growth retardation, DYS {714}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-70
 		male/
1y 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

 Solid staining DD, microcephaly, growth retardation, DYS {699}
RC/W-
18-
p11.?3q2?3/
1-71
 		female/
stillborn 		PBL ?dn
 		46,XX,r(18)(p11.?3q2?3) GTG DD, microcephaly, growth retardation, DYS {716}
RC/W-
18-
p11.?3q2?3/
1-72
 		female/
newborn 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

46,XX,r(18)[76]/45,XX,-18[11]		 Solid staining DD, microcephaly, growth retardation, DYS {700}
RC/W-
18-
p11.?3q2?3/
1-73
 		n.a./
n.a 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

GTG

 DD, microcephaly, growth retardation, DYS {726}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-74
 		male/
9y 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)
dynamic mosaicism: 46,XY[65]/46,XY,r(18)[35]

 GTG DD, microcephaly, growth retardation, DYS, seizures {741}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-75
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3)
dynamic mosaicism: 46,XN,r(18)/45,XN,-18		 GTG DD, microcephaly, growth retardation, DYS {737}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-76
 		male/
9y 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)

dynamic mosaicism: 46,XY[65]/46,XY,r(18)[35]		 GTG DD, microcephaly, growth retardation, DYS, seizures {741}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-77
 		female/
1.5y 		PBL dn

46,XX,r(18)(p11.?3q2?3)

46,XX,r(18)[25]/46,XX[75]		 GTG
FISH
 		DD, growth retardation, DYS {747}
RC/W-
18-
p11.?3q2?3/
1-78
 		male/
newborn 		PBL dn

46,XY,r(18)(p11.?3q2?3)

 GTG DD, growth retardation, DYS {748, case 1}
RC/W-
18-
p11.?3q2?3/
1-79
 		female/
newborn 		PBL dn

46,XX,r(18)(p11.?3q2?3)

 GTG DD, microcephaly, growth retardation, DYS {748, case 2}
RC/W-
18-
p11.?3q2?3/
1-80
 		female/
newborn 		PBL dn

46,XX,r(18)(p11.?3q2?3)

 GTG DD, microcephaly, growth retardation, DYS {748, case 3}
RC/W-
18-
p11.?3q2?3/
1-81
 		female/
newborn 		PBL dn

46,XX,r(18)(p11.?3q2?3)
dynamic mosaicism:
46,XX,r(18)[56]/46,XX,der(18)[11]

 GTG DD, microcephaly, growth retardation, DYS {748, case 4}
RC/W-
18-
p11.?3q2?3/
1-82
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS {749}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-83
 		female/
n.a. 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

 GTG DD, growth retardation, DYS {753}
RC/W-
18-
p11.?3q2?3/
1-84
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS {755}
no details
in paper
RC/W-
18-
p11.?3q2?3/
1-85
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3)
dynamic mosaicism		 GTG
FISH
 		DD, microcephaly, growth retardation, DYS {759}
no details
in paper
RC/W-
18-
p11.?3q2?3/
1-86
 		male/
9y
 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG
 		DD, microcephaly, growth retardation, DYS {762}
no details
in paper
RC/W-
18-
p11.?3q2?3/
1-87
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS, dispigmentaton {770}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-88
 		female/
12y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

 GTG
WES
 		DD, growth retardation, DYS, seizures {772}
RC/W-
18-
p11.?3q2?3/
1-89
 		male/
20y
 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG
 		DD, micrognathia, growth retardation, DYS {773}
RC/W-
18-
p11.?3q2?3/
1-90 to 1-94
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS, dispigmentaton {776, 5 cases}
literature not accessible
RC/W-
18-
p11.?3q2?3/
1-95
 		female/
4y 		PBL ?dn

46,XX,r(18)(p11.?3q2?3)

 GTG
 		DD, growth retardation, DYS {777}
RC/W-
18-
p11.?3q2?3/
1-96 to 1-102
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS, dispigmentaton {776, 7 cases}
RC/W-
18-
p11.?3q2?3/
1-103 to 1-109
 		n.a./
n.a. 		PBL ?dn
 		46,XN,r(18)(p11.?3q2?3) GTG DD, growth retardation, DYS, dispigmentaton {764, 7 cases}
RC/W-
18-
p11.?3q2?3/
1-110
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 GTG
 		DD, growth retardation, DYS {756, case 18; 757; 764}
RC/W-
18-
p11.?3q2?3/
1-111
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)
dynamic mosaicism:
46,XN,r(18)[13]/46,XN,var(18)[76]/46,XN[11]

GTG
 		DD, growth retardation, DYS {756, case 25; 757; 764}
RC/W-
18-
p11.?3q2?3/
1-112
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 GTG
 		DD, growth retardation, DYS {756, case 31; 757; 764}
RC/W-
18-
p11.?3q2?3/
1-113
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.?3q2?3)

 GTG
 		DD, growth retardation, DYS {756, case 28; 757; 764}
RC/W-
18-
p11.?3q2?3/
1-114
 		male/
18y
 		PBL ?dn

46,XY,r(18)(p11.?3q2?3)
dynamic mosaicism:
46,XY,r(18)/46,XY/46,XY,r(18)x2
Subtelomer 18pter and 18qter absent

GTG
FISH
 		DD, DYS, heart problem {911}
RC/W-
18-
p11.?3q2?3/
1-115

female/
~2.7y

PBL

dn

46,XX,r(18)(p11.?3q2?3) 

GTG
 		DD, micrognathia, growth retardation, DYS {1193}
RC/W-
18-
p11.?3q2?3/
1-116a and 1-116b

male/
child

PBL

mat (10% r in mother)

46,XY,r(18)(p11.?3q2?3)

dynamic mosaicism:
46,XY,r(18)[12]/46,XY[68] 		GTG
 		DD, DYS {1192, case 1}
RC/W-
18-
p11.?3q2?3/
1-117

male/
10y

PBL

?dn

46,XY,r(18)(p11.?3q2?3) 

GTG

DD, DYS

 {1209}
RC/W-
18-
p11.?3q2?3/
1-118

male/
newborn

PBL

dn

46,XY,r(18)(p11.?3q2?3) 

GTG

DD, DYS, dispigmentaton

 {1222}
RC/W-
18-
p11.?3q2?3/
2-1
 		female/
n.a. 		PBL ?dn
 		47,XX,r(18)(p11.?3q2?3),+mar GTG DD, microcephaly, growth retardation, DYS {669}
literature not accessible
RC/W-
18-
p11q11/
1-1
 		male/
n.a. 		PBL dn

46,XY,r(18)(p11q11)
dynamic mosaicism:

46,XY/46,XY,r(18)		 GTG
FISH
 		DD, microcephaly, growth retardation, DYS {706, case 2}
RC/W-
18-
p11q12/
1-1
 		female/
prenatal 		CVS ?dn

46,XX,r(18)(p11q12)

dynamic mosaicism: 46,XX,r(18)/45,XX,-18		 GTG
FISH 		DD, growth retardation, DYS; TOP {685}
RC/W-
18-
p11q12/
1-2
 		female/
prenatal 		fibros dn

46,XX,r(18)(p11q12)

dynamic mosaicism:

46,XX[2]/46,XX,r(18)[18]		 GTG
 		anencephaly. DD, growth retardation, DYS, TOP {710}
RC/W-
18-
p11q21/
1-1
 		male/
2y 		PBL ?dn

46,XY,r(18)(p11.2q21)

46,XY,r(18)[50]/46,XY[50]		 GTG DD, autism {687, case 1}
RC/W-
18-
p11q21/
1-2
 		female/
37y 		PBL, fibros dn

46,XX,r(18)(p11.2q21)

dynamic mosaicism: 46,XX,r(18)[25]/46,XX[75]		 GTG DD, growth retardation, autism {687, case 2}
RC/W-
18-
p11q22/
1-1
 		female/
n.a. 		PBL ?dn
 		46,XX,r(18)(p11q22) GTG
FISH 		DD, microcephaly, growth retardation, DYS {706, case 1}
RC/W-
18-
p11q23/
1-1
 		female/
child 		PBL dn
 		46,XX,r(18)(p11q23) GTG DD, microcephaly, growth retardation, DYS {661}
RC/W-
18-
p11q23/
1-2
 		female/
newborn 		PBL mat
46,XX[98]/
47,XX,+r(18)[2] 		46,XX,r(18)(p11q23) GTG
FISH
 DD, microcephaly, growth retardation, DYS
Mother normal
 {691}
RC/W-
18-
p11q23/
1-3
 		female/
~0.75y 		PBL ?dn

46,XX,r(18)(p11q23)

dynamic mosaicism:
46,XX,r(18)[13]/45,XY,-18[3]/47,XY,r(18)x2[2]
 GTG
 DD, DYS
 {625, case 18-2}
RC/W-
18-
p11q23/
1-4
 		male/
prenatal

AF

PBL

CVS 		?dn

46,XY,r(18)(p11q23)

dynamic mosaicism: 46,XY,r(18)[103]/46,XY[13]

no r(18) in CVS, but in umbilical cord

Subtelomer 18pter and 18qter absent 		GTG
FISH
 DD, microcephaly, growth retardation, DYS, TOP
 {721}
RC/W-
18-
p11q23/
1-5
 		male/
14y

PBL

 ?dn

46,XY,r(18)(p11q23)

 GTG
FISH
 DD, growth retardation, DYS, TOP
 {750}
RC/W-
18-
p11.3q23/
1-1
 		female/
2.5y 		PBL dn

46,XX,r(18)(p11.3q23)

dynamic mosaicism:
few cells with dr(18)

 GTG DD, growth retardation, DYS {683}
RC/W-
18-
p11.3q23/
1-2
 		male/
n.a. 		PBL, fibros ?dn

46,XY,r(18)(p11.3q23)

 GTG DD, growth retardation, DYS {595, case 36}
RC/W-
18-
p11.3q23/
1-3
 		female/
11y 		PBL, fibros ?dn

46,XX,r(18)(p11.3q23)

dynamic mosaicism:
46,XX,r(18)[88]/47,XX,r(18)x2[112]

Subtelomer 18pter and 18qter absent
acc. to aCGH at 18p 1.4Mb and 18q 5.4Mb loss

GTG

MolGen
aCGH
 		DD, growth retardation, DYS {722; 1099, case 25}
RC/W-
18-
p11.3q23/
1-4
 		female/
6.5y 		PBL ?dn

46,XX,r(18)(p11.3q23)

dynamic mosaicism:
46,XX,r(18)[86]/45,XX,-18[7]/46,XX,dr(18)[7]

GTG

FISH 		DD, microcephaly, growth retardation, DYS {732}
RC/W-
18-
p11.3q23/
1-5
 		female/
9y 		PBL ?dn

46,XX,r(18)(p11.3q23)

dynamic mosaicism: 45,XX,−18[7]/46,XX,r(18)[92]/46,XX[1]

acc. to aCGH at 18p 4.4Mb and 18q 14Mb loss

GTG

aCGH 		DD, microcephaly, growth retardation, DYS, seizures {739}
RC/W-
18-
p11.3q23/
1-6
 		female/
9.5y 		PBL dn

46,XX,r(18)(p11.3q23)

GTG

 DD, microcephaly, growth retardation, DYS, dispigmentation {740}
RC/W-
18-
p11.3q23/
1-7
 		female/
9y 		PBL dn

46,XX,r(18)(p11.3q23)
dynamic mosaicism:
46,XX,r(18)[27]/46,XX[37]
aCGH shows deletion of pat allele of PWS-region

GTG
aCGH

 DD, microcephaly, growth retardation, DYS; PWS signs {1224}
RC/W-
18-
p11.3q23/
2-1
 		male/
1y 		PBL dn 46,XY,r(18)(9p11->9p13::18p11.3->18q23)
dynamic mosaicism:45,XY,-18[15]/46,XY,der(18)t(9;18)(qter-> 9p13::18p11.3->18qter)[12]/46,XY,r(18)(9p11->9p13::18p11.3->18q23)[73]		 GTG
 DD, microcephaly, growth retardation, DYS
 {690, case 4}
RC/W-
18-
p11.32q21.1/
2-1
 		female/
1.5y 		PBL dn

46,XX,r(18)(p11.32->p11.31::p11.32->q21.2)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 2.4Mb and in 18q 29Mb loss		 GTG

aCGH

 DD, microcephaly, growth retardation, DYS {745, case 5}
RC/W-
18-
p11.32q21.2/
1-1
 		female/
3y 		PBL ?dn

46,XX,r(18)(p11.32q21.2)

acc. to aCGH at 18p 1.5Mb and 18q 29.1Mb loss		 GTG
FISH

aCGH

 DD, microcephaly, growth retardation, DYS {744}
RC/W-
18-
p11.32q21.23/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.32q21.23)
dynamic mosaicism:
46,XN,r(18)[85]/45,XN,-18[15]

acc. to aCGH at 18q ~19Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 13; 757; 764}
RC/W-
18-
p11.32q21.3/
1-1
 		female/
newborn 		PBL ?dn

46,XX,der(18)inv dup(18)

(qter->p11.32::q21.3->qter)[11]/

47,XX,der(18),+r(18)(p11.32q21.3)[5]		 GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 6}
RC/W-
18-
p11.32q21.3/
1-2
 		male/
newborn 		PBL ?dn

46,XY,r(18)(p11.32q21.3)

Subtelomer 18pter absent and 18qter present		 GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 2}
RC/W-
18-
p11.32q21.3/
1-3
 		male/
10y 		PBL ?dn

46,XY,r(18)(p11.32q21.3)

Subtelomer 18pter present and 18qter absent		 GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 3}
RC/W-
18-
p11.32q21.31/
1-1
 		male/
prenatal 		AF ?dn

46,XY,r(18)(p11.32q21.31)

acc. to aCGH in 18q ~24Mb lost

 GTG
aCGH
 DD, microcephaly, growth retardation, DYS, TOP {724, case 7}
RC/W-
18-
p11.32q21.31/
2-1
 		male/
23y 		PBL

mat

47,XX,+r(18)(p11→q21)[10]/

46,XX[90]

46,XY,r(18)(p11.32->p11.32::p11.22->q21.31)

dynamic mosaicism:

46,XY[25]/46,XY,r(18)[75]
acc. to aCGH at 18p 1Mb and in 18q 22Mb loss; also loss of 7Mb as indicated		 GTG
aCGH
 		DD, microcephaly, DYS {742; 751}
RC/W-
18-
p11.32q21.32/
1-1
 		male/
prenatal 		AF ?dn

46,XY,r(18)(p11.32q21.32)

acc. to aCGH in 18q ~22Mb lost

 GTG
aCGH
 DD, microcephaly, growth retardation, DYS, TOP {724, case 9}
RC/W-
18-
p11.32q21.32/
1-2
 		female/
7y 		PBL dn

46,XX,r(18)(p11.32q21.32)

dynamic mosaicism: - not detailed
acc. to aCGH at 18q 18.7Mb loss

 GTG
aCGH
 DD, microcephaly, growth retardation, DYS {745, case 8}
RC/W-
18-
p11.32q21.32/
1-3
 		male/
2.5y 		PBL dn

46,XY,r(18)(p11.32q21.32)

 GTG
 DD, microcephaly, growth retardation, DYS {746}
RC/W-
18-
p11.32q21.32/
1-4
 		male/
child 		PBL ?dn

46,XY,r(18)(p11.32q21.32)

dynamic mosaicism:
46,XY,r(18)[52]/45,XY,?18[3]
acc. to aCGH at 18q 19.9Mb loss

GTG
 DD, microcephaly, growth retardation, DYS {765}
RC/W-
18-
p11.32q21.33/
1-1
 		male/
9y 		PBL ?dn

46,XY,r(18)(p11.32q21.33)

acc. to aCGH in 18q ~17.3Mb lost

 GTG
aCGH
 DD, growth retardation {625, case 18-1}
RC/W-
18-
p11.32q21.33/
1-2
 		female/
5y 		PBL ?dn

46,XX,r(18)(p11.32q21.33)

dynamic mosaicism:
46,XX,r(18)[88]/45,XX,-18[6]/46,XX,r(18)var[6]

acc. to aCGH at 18q 18.6Mb loss

GTG

FISH

aCGH 		DD, growth retardation, DYS {57, case 10}
RC/W-
18-
p11.32q21.33/
1-3
 		female/
n.a. 		PBL ?dn
 		46,XX,r(18)(p11.32q21.33)

GTG
FISH

 DD, growth retardation, DYS {592, case R-7}
RC/W-
18-
p11.32q22/
1-1
 		female/
n.a. 		PBL ?dn 46,XX,r(18)(p11.32q22) GTG
 DD, growth retardation, DYS
 {625, case 18-5}
RC/W-
18-
p11.32q22.1/
1-1
 		female/
newborn 		PBL ?dn

46,XX,r(18)(p11.32q22.1)

Subtelomer 18pter present and 18qter absent

GTG

FISH

 DD, microcephaly, growth retardation, DYS
 {720, case 1}
RC/W-
18-
p11.32q22.1/
1-2
 		female/
22y 		PBL dn

46,XX,r(18)(p11.32q22.1)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 1.6Mb and in 18q 15Mb loss

GTG

aCGH

 DD, microcephaly, growth retardation, DYS
 {745, case 2}
RC/W-
18-
p11.32q22.1/
1-3
 		female/
~0.75y 		PBL dn

46,XX,r(18)(p11.32q22.1)

acc. to aCGH at 18p 2.4Mb and in 18q 14.9Mb loss

GTG

aCGH

 DD, microcephaly, growth retardation, DYS
 {754, case 2}
RC/W-
18-
p11.32q22.1/
1-4
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.32q22.1)

acc. to aCGH at 18p 1.64Mb and in 18q 15Mb loss

GTG

aCGH

 DD, microcephaly, growth retardation, DYS
 {768,
case RD_P414}
RC/W-
18-
p11.32q22.1/
2-1
 		female/
39y 		PBL dn

46,XX,r(18)(p11.32->p11.31::p11.32->q22.1)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 5.8Mb gain and in 18q 12.9Mb loss

GTG

aCGH

 DD, growth retardation, DYS
 {745, case 6}
RC/W-
18-
p11.32q22.1/
3-1
 		n.a./
35y 		PBL dn

46,XN,r(18)(p11.32->p11.31::p11.32->q22.1)

acc. to aCGH at 18p ~0.2Mb and 18q ~12.8Mb loss and dup of 5.4Mb in 18p 11.32p11.31

GTG
FISH

aCGH

 DD, growth retardation, DYS
 {1099, case 21}
RC/W-
18-
p11.32q22.2/
1-1
 		male/
7y 		PBL ?dn

46,XY,r(18)(p11.32q22.2)

dynamic mosaicism:
46,XY,r(18)[89]/45,XY,-18[6]/46,XY,r(18)var[5]

acc. to aCGH at 18p ~1.3Mb and 18q 11.1Mb loss

GTG

FISH

aCGH 		DD, microcephaly growth retardation, DYS
 {57, case 9}
RC/W-
18-
p11.32q22.2/
1-2
 		male/
11y 		PBL dn

46,XY,r(18)(p11.32q22.2)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 1.4Mb and in 18q 11Mb loss

GTG

aCGH 		DD, microcephaly growth retardation, DYS
 {745, case 7}
RC/W-
18-
p11.32q22.2/
1-3
 		female/
27y 		PBL dn

46,XX,r(18)(p11.32q22.2)

GTG

 DD, microcephaly growth retardation, DYS
 {774}
RC/W-
18-
p11.32q22.2/
2-1
 		female/
newborn 		PBL dn

46,XX,r(18)(p11.32->q22.2::q22.2::q22.2)

dynamic mosaicism: 46,XX,r(18)(p11.32q22.2)[92]/45,XX,-18[7]/47,XX,r(18)x2[1]
acc. to aCGH at 18q 9.8Mb loss; also two adjacent duplications of 278 kbp and 646 kbp at 18q22.2

GTG

aCGH 		DD, microcephaly growth retardation, DYS
 {766}
RC/W-
18-
p11.32q22.2/
3-1
 		female/
n.a. 		PBL ?dn

46,XX,r(18)(p11.32->p11.31::p11.32->18q22.2)

acc. to aCGH at 18p ~1.2Mb and 18q ~9.5Mb loss and 4.9Mb dup in 18p11.32p11.31

GTG

aCGH 		DD, microcephaly growth retardation, DYS
 {1188, case 21}
RC/W-
18-
p11.32q22.3/
1-1
 		male/
4.25y 		PBL dn

46,XY,r(18)(p11.32q22.3)

dynamic mosaicism:

46,XY,r(18)[94]/45,XY,-18[4]/46,XY,dr(18)[2]

Subtelomer 18pter and 18qter absent		 GTG
FISH
 DD, microcephaly, growth retardation, DYS
 {713}
RC/W-
18-
p11.32q22.3/
1-2
 		female/
prenatal

fibros

 dn

46,XX,r(18)(p11.32q22.3)

dynamic mosaicism: 46,XX,r(18)/45,XX,-18/46,XX,dr(18)

GTG

 DD, microcephaly, growth retardation, DYS; twins
 {729, cases C1 and C2}
RC/W-
18-
p11.32q22.3/
1-3
 		male/
3y

PBL

 ?dn

46,XY,r(18)(p11.32q22.3)
acc. to aCGH at 18p 0.3Mb and in 18q 7.5Mb loss

GTG
FISH
aCGH

 DD, microcephaly, growth retardation, DYS
 {761}
RC/W-
18-
p11.32q22.3/
1-4
 		male/
prenatal

PBL

 ?dn

46,XY,r(18)(p11.32q22.3)
acc. to aCGH at 18p 0.02Mb and in 18q 9Mb loss

GTG
aCGH

 TOP
 {916}
RC/W-
18-
p11.32q22.3/
2-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.32->p11.21: :p11.32->q22.3::q11.2->q22.3)
acc. to aCGH at 18p ~1.5Mb and 18q ~10Mb loss and dup of ~8.5Mb in 18p and of ~44Mb in 18q

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 11, 757; 764}
RC/W-
18-
p11.32q22.3/
3-1
 		n.a./
5y
 		PBL dn

46,XN,r(18)(p11.32->p11.21::p11.32->q22.3)
acc. to aCGH at 18p 0.5Mb and 18q 7.95Mb loss and dup of 14.8Mb in 18p

 GTG
FISH
aCGH
 		DD, growth retardation, DYS, hypotonia  {1099, case 26}
RC/W-
18-
p11.32q23/
1-1
 		female/
n.a. 		PBL ?dn

46,XX,r(18)(p11.32q23)

dynamic mosaicism: 46,XX,r(18)(p11.32q23)[14]/

 46,XX,r(18)(::p11.32->q23::p11.32->q23::)[13]/

 46,XX,r(18)(::p11.32->q23::p11.32->q23::)x2[3]/

 45,XX,-18[4]/

 45,XX,-18,r(18)(p11.32q23)[2]/

 46,XX,r(18)(p11.32q22.1)[1]/

 45,XX,-18,r(18)(p11.32q23)x2[1]/

 46,XX,der(18)(:p11.2->q11.2:)[1]/

 47,XX,-18,+der(18)(:p11.2->q11.2:)x2[1]

GTG

FISH 		DD, growth retardation, DYS
 {592, case R-5}
RC/W-
18-
p11.32q23/
1-2
 		female/
n.a. 		PBL ?dn

46,XX,r(18)(p11.32q23)

dynamic mosaicism: 47,XX,r(18)(::p11.32->q23::p11.32->q23::),+del(18)(q?11.2)[1]/

 46,XX,der(18)(:p11.?1->q11.?1:)[1]/

 47,XX,-18,+der(18)(:p11.?1->q11.?1:)x2[1]/46,XX,r(18)(p11.32q23)[25]/

 46,XX,r(18)(::p11.32->q23::p11.32->q23::)[11]/

 45,XX,-18[3]

GTG

FISH

 DD, growth retardation, DYS
 {592, case R-6}
RC/W-
18-
p11.32q23/
1-3
 		female/
~0.6y 		PBL ?dn

46,XX,r(18)(p11.32q23)

dynamic mosaicism: 46,XX,r(18)[90]/45,XX,-1[10]

Subtelomer 18pter and 18qter absent

GTG

MolGen

 DD, microcephaly, growth retardation, DYS
 {725}
RC/W-
18-
p11.32q23/
1-4
 		female/
child 		PBL ?dn

46,XX,r(18)(p11.32q23)

GTG

FISH

 DD, growth retardation, DYS
 {727}
literature not accessible
RC/W-
18-
p11.32q23/
1-5

female/
7y

PBL

dn

46,XX,r(18)(p11.32q23)

dynamic mosaicism:
46,XX,r(18)[54]/45,XX,-18[7]/46,XX,dr(18)[2]/46,XX[37]

GTG

 DD, microcephaly, growth retardation, DYS
 {1194}
RC/W-
18-
p11.32q23/
2-1
 		male/
~1.8y

fibros

 dn

46,XY,t(3;6),r(18)(p11.32q23)

dynamic mosaicism: 46,XY,r(18)/45,XY,-18/46,XY,dr(18)

acc. to aCGH at 18p 2.8Mb and 18q 22.5Mb loss

GTG
aCGH

 DD, microcephaly, growth retardation, DYS
 {730}
literature not accessible
RC/W-
18-
p11.32q23/
3-1
 		n.a./
postnatal

fibros

 dn

46,XN,r(18)(p11.32->p11.1::p11.32->q23)

acc. to aCGH at 18p 15.4Mb gain and 18q ~0.9Mb loss

GTG
aCGH

 no details provided
 {1099, case 23}
RC/W-
18-
p11.32~11.23q21.1/
1-1
 		female/
newborn 		PBL ?dn

47,XX,r(18)(p11.32~11.23p10),

+r(q10q21.1)

GTG

MolGen 		DD, microcephaly, growth retardation, DYS
 {723}
RC/W-
18-
p11.31q21.2/
1-1
 		female/
14y 		PBL ?dn

46,XX,r(18)(p11.31->p11.23::p11.31->q21.2)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 6.6Mb and in 18q 24.3Mb loss; also dup of 1.4 Mb in 18p

GTG

aCGH

 DD, microcephaly, growth retardation, DYS
 {745, case 4}
RC/W-
18-
p11.31q21.2/
2-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31q21.2)
acc. to aCGH at 18p ~8Mb and 18q ~30Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 22; 757; 764}
RC/W-
18-
p11.31q21.31/
1-1
 		female/
newborn 		PBL dn

46,XX,r(18)(p11.31q21.31) 

acc. to aCGH at 18p 6.3Mb and in 18q 21.9Mb loss

GTG

aCGH

 DD, microcephaly, growth retardation, DYS
 {679}
RC/W-
18-
p11.31q22.1/
1-1
 		female/
10y 		PBL ?dn

46,XX,r(18)(p11.31q22.1)

dynamic mosaicism:
46,XX,r(18)[45]/45,XX,-18[4]

Subtelomer 18pter and 18qter absent

acc. to aCGH at 18p ~3.5Mb and 18q 16Mb loss

GTG

FISH

aCGH

OGM 		DD, growth retardation, DYS
 {625, case 18-3}
RC/W-
18-
p11.31q22.3/
1-1
 		male/
~1y 		PBL ?dn

46,XY,r(18)(p11.31->p11.31:
:p11.31->p11.31::p11.31->
p11.31::p11.31->p11.21:
:p11.31->q22.3)

acc. to aCGH at 18p ~6.3Mb and 18q 9.1Mb loss; also 4 copies of 18p11.31p11.31 (hg19: 6,338,582-6,692,745) and 2 copies of 18p11.31p11.21 (hg19:6,692,745-11,857,324)

GTG

aCGH

OGM 		DYS, heart defect
 {625, case 18-4}
RC/W-
18-
p11.31q22.3/
2-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31q22.3) 

acc. to aCGH at 18p ~3.5Mb and 18q 8Mb loss

GTG

aCGH

OGM 		DD, growth retardation, DYS
 {756, case 3; 757; 764}
RC/W-
18-
p11.31q22.3/
2-2
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31q22.3)
dynamic mosaicism:
46,XN,r(18)[85]/45,XN,-18[15] 

acc. to aCGH at 18p ~5Mb and 18q ~10Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 16; 757; 764}
RC/W-
18-
p11.31q22.3/
2-3
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31q22.3)
acc. to aCGH at 18p ~3Mb and 18q ~10Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 23; 757; 764}
RC/W-
18-
p11.31q22.3/
3-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31->q22.3:
:q22.3->q22.3)
dynamic mosaicism:
46,XN,r(18)[52]/46,XN,var(18)[48]

acc. to aCGH at 18p ~3.5Mb and 18q ~9Mb loss and dup in 18q22.3 ~0.7Mb

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 20; 757; 764}
RC/W-
18-
p11.31q23/
1-1
 		female/
6.5y 		PBL dn

46,XX,r(18)(p11.31q23)
acc. to aCGH at 18p ~3.9Mb and 18q 4.8Mb loss

GTG

aCGH

 DD, growth retardation, DYS
 {760}
RC/W-
18-
p11.31q23/
2-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.31->q23::q22.1->q23)
acc. to aCGH at 18p ~3Mb and 18q ~0.5Mb loss and dup ~16.5Mb

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 32; 757; 764}
RC/W-
18-
p11.2q21.33/
1-1
 		male/
3y 		PBL dn

46,XY,r(18)(p11.2q21.33)

dynamic mosaicism:

46,XY,r(18)[96]/45,XY,-18[4]		 GTG
FISH
 		DD, microcephaly, growth retardation, DYS {709}
RC/W-
18-
p11.2q21.33/
1-2
 		female/
prenatal 		AF
chorion, cord, fibros 		dn

46,XX,r(18)(p11.2q21.33)

dynamic mosaicism:

blood: 46,XX,r(18)[27]/45,XX,-18[13]		 GTG
 		DD, microcephaly, growth retardation, DYS; TOP {711}
RC/W-
18-
p11.2q21.33/
1-3
 		male/
newborn 		PBL ?dn

46,XY,r(18)(p11.2q21.33)

Subtelomer 18qter absent		 GTG
MolGen
 		DD, microcephaly, growth retardation, DYS {746}
RC/W-
18-
p11.2q22/
1-1
 		female/
4y 		PBL ?dn

46,XX,r(18)(p11.2q22)

dynamic mosaicism:
46,XX,r(18)[92]/46,XX[3]/45,XX-18[5]		 GTG DD, microcephaly, micrognathia, growth retardation, DYS {674}
RC/W-
18-
p11.2q22.1/
1-1
 		male/
0.25y 		PBL ?dn
 		46,XY,r(18)(p11.2q22.1) GTG DD, microcephaly, growth retardation, DYS {663, case 10}
RC/W-
18-
p11.2q22.2/
1-1
 		male/
1y 		PBL ?dn
 		46,XY,r(18)(p11.2q22.2) GTG DD, microcephaly, growth retardation, DYS {663, case 13}
RC/W-
18-
p11.2q22.3/
1-1
 		female/
16y 		PBL ?dn
 		46,XX,r(18)(p11.2q22.3) GTG DD, microcephaly, growth retardation, DYS {663, case 12}
RC/W-
18-
p11.2q22.3/
1-2
 		male/
0.7y 		PBL ?dn
 		46,XY,r(18)(p11.2q22.3) GTG DD, microcephaly, growth retardation, DYS {663, case 11}
RC/W-
18-
p11.2q23/
1-1
 		female/
14y 		PBL dn

46,XX,r(18)(p11.2q23)

dynamic mosaicism:

46,XX,r(18)[89]/45,XY,-18[5]/46,XX,dr(18)[6]		 GTG DD, microcephaly, growth retardation, DYS {712}
RC/W-
18-
p11.2q23/
1-2
 		female/
~1y 		PBL ?dn

46,XX,r(18)(p11.2q23)

dynamic mosaicism:
46,XX,r(18)[98]/46,XX,dr(18)[2]		 GTG
FISH
 		DD, microcephaly, growth retardation, DYS {736}
RC/W-
18-
p11.2q23/
1-3
 		male/
2y 		PBL ?dn
 		46,XY,r(18)(p11.2q23) GTG
 		DD, microcephaly, growth retardation, DYS {743}
RC/W-
18-
p11.2q23/
1-4
 		male/
3y 		PBL dn
 		46,XY,r(18)(p11.2q23)
dynamic mosaicism: 46,XY,r(18)(p11.2q23)[97]/45,XY,-18[3] 		GTG
 		DD, microcephaly, growth retardation, DYS {752}
RC/W-
18-
p11.23q22.3/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.23q22.3)

dynamic mosaicism:
46,XN,r(18)[97]/45,XN,-18[3]
acc. to aCGH at 18p ~8Mb and 18q ~9Mb loss

GTG

aCGH 		DD, growth retardation, DYS {756, case 10; 757; 764}
RC/W-
18-
p11.23q23/
1-1
 		female/
~0.7y 		PBL ?dn

46,XX,r(18)(p11.23q23)

dynamic mosaicism:
46,XX,del(18)(p11.23)[~90]/

46,XX,idic(18)(p11.23)[6]/46,XX,r(18)[4]

GTG

 DD, microcephaly, growth retardation, DYS, dispigmentation {701}
RC/W-
18-
p11.22q21.2/
1-1
 		male/
prenatal 		fibros dn

46,XY,r(18)(p11.22q21.2)

dynamic mosaicism: 46,XY,r(18)/45,XY,-18/46,XY,dr(18)

GTG

 DYS, TOP {729, case B}
RC/W-
18-
p11.22q21.31/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.22q21.31)
acc. to aCGH at 18p 10Mb and 18q 17.5Mb loss

GTG
aCGH

 DD, growth retardation, DYS, {756, case 1; 757; 764}
RC/W-
18-
p11.22q21.32/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.22q21.32)
acc. to aCGH at 18p 8.5Mb and 18q ~56.5 Mb loss

GTG
aCGH

 DD, growth retardation, DYS, {756, case 8; 757; 764}
RC/W-
18-
p11.22q21.32/
2-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.22->p11.22::p11.22->q21.32)
dynamic mosaicism: 46,XN,r(18)[94]/45,XN,-18[6]
acc. to aCGH at 18p 8.5Mb and 18q ~22Mb loss, and smal
dup in p11.22

GTG
aCGH

 DD, growth retardation, DYS, {756, case 9; 757; 764}
RC/W-
18-
p11.22q21.33/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.22q21.33)
dynamic mosaicism: 46,XN,r(18)[90]/46,XN,var(18)[10] 
acc. to aCGH at 18p 9.5Mb and 18q 19Mb loss

GTG
aCGH

 DD, growth retardation, DYS, {756, case 6; 757; 764}
RC/W-
18-
p11.22q22.2/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.22->q12.2: :q12.2->q22.1::q21.1->q22.2)
acc. to aCGH at 18p ~8.5Mb and 18q ~21Mb loss and dups of  ~0.3 and ~10 Mb

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 24; 757; 764}
RC/W-
18-
p11.22q22.3/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.22q22.3)
dynamic mosaicism:

acc. to aCGH at 18p ~8.5Mb and 18q ~10Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 30; 757; 764}
RC/W-
18-
p11.22q23/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.22q23)
dynamic mosaicism:
46,XN,r(18)[82]/45,XN,-18[11]/47~48,r(18)x2~3[7]

acc. to aCGH at 18p ~10Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 17; 757; 764}
RC/W-
18-
p11.22q23/
1-2
 		male/
~3y
 		PBL ?dn

46,XY,r(18)(p11.22q23)
dynamic mosaicism:
46,XY,r(18)/45,XY,-18
acc. to aCGH at 18p ~10.4Mb and at 18q ~3.2Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS, microcephaly, hypotonia  {1223}
RC/W-
18-
p11.21q21.2/
1-1
 		male/
prenatal - newborn 		AF/PBL dn

46,XY,r(18)(p11.21q21.2)

dynamic mosaicism: 46,XY,r(18)[81]/45,XY,-18[13]/46,XY,dr(18)[3]/46,XY[3]

acc. to aCGH at 18p 14.9Mb and 18q 29.6Mb loss

GTG

aCGH 		DD, microcephaly, growth retardation, DYS {734}
RC/W-
18-
p11.21q21.23/
1-1
 		male/
3y 		fibros ?dn

46,XY,r(18)(p11.21q21.23)

acc. to aCGH at 18p 14.9Mb and in 18q 20.8Mb loss

GTG

 DD, growth retardation, DYS {775, case 2}
literature not accessible
RC/W-
18-
p11.21q21.31/
1-1
 		female/
12y 		PBL ?dn

46,XX,r(18)(p11.21q21.31)

acc. to aCGH at 18p ~14Mb and 18q 23.7Mb loss
also a del in 13q12.12 of ~0.5Mb

GTG

FISH

aCGH 		DD, microcephaly, growth retardation, DYS {745}
RC/W-
18-
p11.21q21.31/
1-2
 		female/
prenatal 		AF dn

46,XX,r(18)(p11.21q21.31)

dynamic mosaicism:
 46,XX,r(18)[27]/45,XX,-18[5]
acc. to aCGH at 18p ~11Mb and 18q 19.4Mb loss

GTG

aCGH 		DD, growth retardation, DYS, TOP {754, case 1}
RC/W-
18-
p11.21q21.31/
1-3
 		male/
newborn 		PBL dn

46,XX,r(18)(p11.21q21.31)

acc. to aCGH at 18p ~14.9Mb and 18q 14.4Mb loss

GTG

aCGH 		DD, growth retardation, DYS {758}
RC/W-
18-
p11.21q21.31/
1-4
 		male/
prenatal/ newborn 		AF/ PBL ?dn

46,XY,r(18)(p11.21q21.31)

acc. to aCGH at 18p ~15.1Mb and 18q 19.2Mb loss

GTG

aCGH 		DD, growth retardation, micrognathia  DYS {1227}
RC/W-
18-
p11.21q21.32/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.21->p11.21: :p11.21->p11.21::p11.21->q21.32)

dynamic mosaicism: 46,XN,r(18)[90]/46,XN,var(18)[10]
acc. to aCGH at 18p ~11Mb and 18q 23Mb loss, and 2x small dup in 18p11.21

GTG

aCGH 		DD, growth retardation, DYS {756, case 4; 757; 764}
RC/W-
18-
p11.21q22.1/
1-1
 		male/
0.25y 		PBL ?dn

46,XY,r(18)(p11.21q22.1)
dynamic mosaicism:46,XY,r(18)[40]/46,XY[7]

acc. to aCGH at 18p ~14.9Mb and 18q 14Mb loss

GTG

aCGH 		DD, growth retardation, DYS {903; 775, case 1}
literature not accessible
RC/W-
18-
p11.21q22.1/
2-1
 		female/
32y 		PBL ?dn

46,XX,r(18)(p11.21->q22.1::q11.21->q22.1)

acc. to aCGH at 18p ~14Mb and 18q 11.6Mb loss
also dup 47.8Mb

GTG

aCGH 		DD, growth retardation, DYS {763}
RC/W-
18-
p11.21q22.1/
3-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.21->q22.1::q21.33->q22.1)
acc. to aCGH at 18p ~13Mb and 18q ~12Mb loss and dup ~3.5Mb at 18q

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 12; 757; 764}
RC/W-
18-
p11.21q22.2/
1-1
 		female/
7y 		PBL ?dn

46,XX,r(18)(p11.21q22.2)

dynamic mosaicism:
46,XX,r(18)(p11.21q22.2)[30]/46,XX,psu idic(18)(p11.2)[25] and more variants after FISH

acc. to aCGH at 18p ~15Mb and 18q 6.1Mb loss

GTG

FISH

aCGH 		DD, growth retardation, DYS {767}
RC/W-
18-
p11.21q22.3/
1-1
 		n.a./
postnatal 		PBL dn

46,XN,r(18)(p11.21q22.3)

acc. to aCGH at 18p ~11.75Mb and 18q 6.7Mb loss

GTG

FISH

aCGH 		no details provided {1099, case 22}
RC/W-
18-
p11.21q22.3/
1-2
 		n.a./
postnatal 		PBL dn

46,XN,r(18)(p11.21q22.3)

acc. to aCGH at 18p ~13.7Mb and 18q 5.5Mb loss

GTG

FISH

aCGH 		no details provided {1099, case 24}
RC/W-
18-
p11.21q23/
1-1
 		female/
11y 		PBL ?dn

46,XX,r(18)(p11.21q23)

dynamic mosaicism:
46,XX,r(18)[87]/45,XX,-18[7]/46,XX,r(18)var[6]

acc. to aCGH at 18p ~15.5Mb and 18q 1.6Mb loss

GTG

FISH

aCGH 		DD, growth retardation, DYS {57, case 11}
RC/W-
18-
p11.21q23/
1-2
 		female/
prenatal 		AF ?dn

46,XX,r(18)(p11.21q23)

dynamic mosaicism:
46,XX,r(18)[7]/45,XX,-18[3]

GTG

hydrocephalus

TOP 		{541, case R-12}
RC/W-
18-
p11.21q23/
1-3
 		female/
13y 		PBL ?dn

46,XX,r(18)(p11.21q23)

dynamic mosaicism: - not detailed
acc. to aCGH at 18p 15.2Mb and in 18q 1.7Mb loss

GTG

 DD, growth retardation, DYS {745, case 9}
RC/W-
18-
p11.21q23/
1-4
 		male/
3y 		fibros ?dn

46,XY,r(18)(p11.21q23)

dynamic mosaicism: - in cell line 46,XY,r(18)[50]/45,XY,-18[6]/47,XY,r(18)x2[1]
acc. to aCGH at 18p 13.5Mb and in 18q 1.2Mb loss

GTG

 DD, growth retardation, DYS {771}
RC/W-
18-
p11.21q23/
1-5
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.21q23)

dynamic mosaicism: 46,XN,r(18)[87]/45,XN,-18[13]
acc. to aCGH at 18p 11.5Mb loss

GTG
aCGH

 DD, growth retardation, DYS {756, case 5; 757; 764}
RC/W-
18-
p11.1q11.2/
1-1
 		female/
0.5y 		PBL dn

46,XX,idic(18)(p11.1)[92]/

46,XX,r(18)(p11.1->q11.2::q11.2->p11.1)[8]

GTG
FISH
 		DD, microcephaly, growth retardation, DYS {728}
RC/W-
18-
p11.1q12.3~21.1/
1-1
 		female/
11y 		PBL ?dn

46,XX,r(18)(p11.1q12.3~21.1)

dynamic mosaicism:
46,XX,r(18)[7]/46,XX,der(18)(:p11.1->q12.3~21.1:)[12]

GTG DD, growth retardation, DYS {541, case R-11}
RC/W-
18-
p11.1q21.3/
1-1
 		female/
newborn 		PBL ?dn

46,XX,r(18)(p11.1q21.3)

Subtelomer 18pter absent and 18qter present		 GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 4}
RC/W-
18-
p11.1q21.3/
1-2
 		male/
~0.7y 		PBL ?dn

46,XY,r(18)(p11.1q21.3)

Subtelomer 18pter absent and 18qter present		 GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 5}
RC/W-
18-
p11.1q21.3/
1-3
 		male/
~10y 		PBL dn
 		46,XY,r(18)(p11.1q21.31)
dynamic mosaicism: - not detailed
acc. to aCGH at 18p ~15.4Mb and 18q 22.6Mb loss		 GTG
aCGH
 DD, growth retardation, DYS {745, case 1}
RC/W-
18-
p11.1q21.3/
2-1
 		female/
10y 		PBL ?dn
 		46,XX,der(18)inv dup(18)(qter->p11.32::p11.32->p11.1: :q21.3->qter)[60]/47,XX,der (18),+r(18)(p11.1q21.3)[40] GTG
FISH
 DD, microcephaly, growth retardation, DYS {720, case 7}
RC/W-
18-
p11.1q21.31/
1-1
 		female/
~8y 		PBL ?dn
 		46,XX,r(18)(p11.1q21.31)
 dynamic mosaicism: - not detailed
acc. to aCGH at 18p ~15.4Mb and 18q 3.3Mb loss		 GTG
aCGH
 DD, microcephaly, growth retardation, DYS {745, case 3}
RC/W-
18-
p11.1q22/
1-1
 		male/
prenatal 		fibros dn

46,XY,r(18)(p11.1q22)

dynamic mosaicism:
46,XY,r(18)/45,XY,-18/46,XY,dr(18)/46,XY,del(18)(p11.1q12)

GTG
 		DYS, TOP {729, case A}
RC/W-
18-
p11.1q22.1/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q22.1)
dynamic mosaicism:
46,XN,r(18)[81]/46,XN,var(18)[19]

acc. to aCGH at 18p ~14Mb and 18q ~12.5Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 15; 757; 764}
RC/W-
18-
p11.1q22.1/
1-2
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q22.1)
acc. to aCGH at 18p ~14Mb and 18q ~12.5Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 19; 757; 764}
RC/W-
18-
p11.1q22.1/
1-3
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q22.1)
acc. to aCGH at 18p ~13.8Mb and 18q ~17Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 27; 757; 764}
RC/W-
18-
p11.1q22.2/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XY,r(18)(p11.1q22.2)
acc. to aCGH at 18p ~14Mb and 18q ~22Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 29; 757; 764}
RC/W-
18-
p11.1q22.3/
1-1
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q22.3)
dynamic mosaicism:
46,XN,r(18)[94]/45,XN,-18[6]

acc. to aCGH at 18p ~14Mb and 18q ~10Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 14; 757; 764}
RC/W-
18-
p11.1q23/
1-1
 		n.a./
n.a. 		PBL ?dn

46,XN,r(18)(p11.1q23)
dynamic mosaicis:
46,XN,r(18)[93]/45,XN,-18[7]
acc. to aCGH at 18p ~14Mb and 18q 7.5Mb loss

 GTG DD, microcephaly, micrognathia, growth retardation, DYS {756, case 7; 757; 764}
RC/W-
18-
p11.1q23/
1-2
 		male/
4y 		PBL ?dn

46,XY,r(18)(p11.1q23)
dynamic mosaicism

GTG DD, microcephaly, micrognathia, growth retardation, DYS {75, case 6}
RC/W-
18-
p11.1q23/
1-3
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q23)
acc. to aCGH loss at 18p ~14Mb

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 2; 757; 764}
RC/W-
18-
p11.1q23/
1-4
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q23)
acc. to aCGH at 18p ~20Mb and 18q ~2.5Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 21; 757; 764}
RC/W-
18-
p11.1q23/
1-5
 		n.a./
n.a.
 		PBL ?dn

46,XN,r(18)(p11.1q23)
acc. to aCGH at 18p ~14Mb and 18q ~1.5Mb loss

 GTG
aCGH
 		DD, growth retardation, DYS {756, case 26; 757; 764}

Ref 657 and 660 – unclear if case reported or only review