ChromosOmics - Database





                                                  - CHROMOSOME  11 -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet (variable clinical features)

 - DD = developmental delay (including intellectual disability)
- growth retardation
- microcephaly
- DYS = dysmorphic facial features
- dermatological features (= dispigmentation incl. café-au-lait spots)
- also possible:  congenital heart disease, thromobocytopenia

Wilms tumor in case deletion in 11p:
includes corresponding critical region in 11p13 - hg19: 32,409,321-32,457,085 Mb

Cases without clinical findings (O)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype test
methods
 		clinical symptoms
 		Reference
RC/O-
11-
p15q25/
1-1
 		male/
~0.75y
 		PBL
?dn
 		46,XY,r(11)(p15q25)
dynamic mosaicism:
46,XX,r(11)[92]/45,XX,-11[6]/46,XX,dr(11)[2]
 		GTG
 		DD, syndactyly, Wilms tumor
 {1, case RC11-5;
245, case 2}
RC/O-
11-
p15q25/
1-2
 		male/
11y
 		PBL
dn
 		46,XY,r(11)(p15q25)
dynamic mosaicism: 46,XY,r(11)[72]/45,XY,-11[3]/46,XY[30]
 		GTG
 		DD, microcephaly
 {1, case RC11-6;
246}
RC/O-
11-
p15q25/
1-3
 		female/
child
 		PBL
?dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism: 46,XX,r(11)[64]/47,XXX,r(11)[11]
 		GTG
 		growth retardation, slight DYS
 {1, case RC11-7;
247}
RC/O-
11-
p15q25/
1-4, 1-4a, 1-4b 		female/
33y, 15y, 4y
 		PBL
mat
from mother on 2 children
 		46,XX,r(11)(p15q25)
dynamic mosaicism (example for 4y old girl): 46,XX,r(11)[196]/45,XX,-11[2]/46,XX[2] 		GTG
 		DD, microcephaly, growth retardation,  dispigmentation mild cogn. impairment only
 {1, case RC11-8;
248}
RC/O-
11-
p15q25/
1-5, 1-5a 		female/
adult and 8y
 		PBL
mat
from mother 1 daughter
 		46,XX,r(11)(p15q25)
dynamic mosaicism only in mother with 45,XX,-11 		GTG
 		growth retardation,  dispigmentation otherwise normal
 {1442 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
11-
p15.5q25/
1-1
 		female/
prenatal
 		PBL
dn
 		46,XX,r(11)(p15.5q25)
dynamic mosaicism: 46,XX,r(11)[14]/45,XX,-11[7]
Subtelomer 11pter and 11qter present
GTG
FISH
 		DYS {1, case RC11-9;
249}
RC/O-
11-
p15.4q24.3/
1-1
 		male/
2.5y
 		PBL
dn
 		46,XY,r(11)(::p15.4->p15.5 or p15.5->p15.4::p15.4->q24.3)
dynamic mosaicism: 45,XY,r(11)[90]/45,XY,-11[8]/47,XY,r(11)x2[2]
acc. to aCGH 0.6Mb deletion in 11pter and 4.8Mb
dup in 11p15.5p15.4 and 6.5Mb
deletion 11qter 		GTG
FISH
aCGH 		DD, Wilms tumor
 {1, case RC11-10;
250}
RC/O-
11-
p15.3q24/
1-1, 1-1a, 1-1b 		females/
37y, 19y, 6y
 		PBL
mat from grandmother to mother and from mother to daughter
 		46,XX,r(11)(p15.3q25)
dynamic mosaicism only in grandmother: 46,XX,r(11)[16]/46,XX,dr(11)[4]/45,XX,-11[7]
Subtelomer 11pter absent
acc. to aCGH in 11p 0.36Mb
loss
 GTG
FISH
aCGH 		 microcephaly, growth retardation, dispigmentation {1, case RC11-13;
251, cases 3, 4, 5}

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-
11-
p1?5q2?5/
1-1
 		female/
n.a.
 		PBL
?dn
 		46,XX,r(11)(p1?5q2?5)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{573}
literature not accessible
RC/W-
11-
p1?5q2?5/
1-2
 		male/
postnatal
 		PBL
?dn
 		46,XY,r(11)(p1?5q2?5)
 		GTG
 		DD, microcephaly, micrognathia, growth retardation, DYS; heart defect, dispigmentation, thromobocytopenia, anemia {1434 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p1?5q2?5/
1-3
 		female/
5y
 		PBL
?dn
 		46,XX,r(11)(p1?5q2?5)
 		GTG
 		  growth retardation, DYS
 		{1436 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p1?5q2?5/
1-4
 		female/
2y
 		PBL
?dn
 		46,XX,r(11)(p1?5q2?5)
 		GTG
 		DD, microcephaly, growth retardation, DYS
 		{1437 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15q23/
1-1
 		male/
9y
 		PBL
?dn
 		46,XY,r(11)(p15q23)
 		GTG
 		DD, micrognathia, growth retardation, DYS,  {1435 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15q24/
1-1
 		male/
~0.5y
 		PBL
?dn
 		46,XY,r(11)(p15q24)
dynamic mosaicism: 46,XY,r(11)[47]/46,XY,dr(11)[3]
Subtelomer 11pter present and 11qter absent
acc. to aCGH in 11qter 8.8Mb loss
 		GTG
FISH
aCGH
 		DD, , DYS, thromobocytopenia, ASD {1439 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15q25/
1-1
 		female/
0.25y
 		PBL
dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism: 46,XX,r(11)[17]/45,XX,-11[1]
 		GTG
 		DD, microcephaly, growth retardation, DYS, dispigmentation {1, case RC11-1;
242}
RC/W-
11-
p15q25/
1-2
 		female/
2y
 		PBL
?dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism: 46,XX,r(11)[102]/45,XX,-11[22]
 		GTG
 		DD, microcephaly, growth retardation, DYS, dispigmentation {1, case RC11-2;
243}
RC/W-
11-
p15q25/
1-3
 		female/
0.5y
 		PBL
dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism:
46,XX,r(11)
[70]/46,XX,r(11;11)[2]
 		GTG
 		DD, microcephaly, growth retardation, DYS,
dispigmentation 		{1, case RC11-3;
244}
RC/W-
11-
p15q25/
1-4
 		female/
~0.75y
 		PBL
dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism: 46,XX,r(11)[86]/45,XX,-11[8]/46,XX,dr(11;11)[4]
 		GTG
 		DD, microcephaly, growth retardation, DYS,
dispigmentation 		{1, case RC11-4;
245, case 1}
RC/W-
11-
p15q25/
1-5
 		female/
~1.1y
 		PBL
dn
 		46,XX,r(11)(p15q25)
dynamic mosaicism: 46,XX,r(11)/45,XX,-11/46,XX,dr(11;11)/46,XX,var(11)
 		GTG
 		DD, microcephaly, growth retardation, DYS,
hypotonia		  {1437 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.5q23.3/
1-1
 		female/
3y
 		PBL
dn
 		46,XX,r(11)(p15.5q23.3)
dynamic mosaicism: 46,XY,r(11)[34]/45,XY,-11[2]
Subtelomer 11pter present and 11qter absent
acc. to aCGH in 11qter 14.1Mb
loss 		GTG
FISH
aCGH 		DD, microcephaly, growth retardation, DYS,
dispigmentation 		{1, case RC11-12;
251, case 2}
RC/W-
11-
p15.5q23.3/
1-2
 		male/
newborn
 		PBL
?dn
 		46,XY,r(11)(p15.5q23.3)
dynamic mosaicism: 46,XY,r(11)[34]/45,XY,-11[2]
Subtelomer 11pter present and 11qter absent
acc. to aCGH in 11qter
loss - no details provided 		GTG
FISH
aCGH 		DYS,
pancytopenia		  {1443 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.5q24.2/
1-1
 		female/
prenatal
 		AF, PBL
dn
 		46,XX,r(11)(p15.5q24.2)
dynamic mosaicism: 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]
Subtelomer 11pter and 11qter absent
 		GTG
FISH
 		IUGR, TOP {1433 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.5q24.2/
1-2
 		male/
4y
 		  PBL
?dn
 		46,XY,r(11)(p15.5q24.2)
dynamic mosaicism: 46,XY,r(11)[82]/45,XY,-11[16]/46,XY[2]
aCC: to aCGH lel 11qter - no details on size provided
 		GTG
aCGH
 		DD, microcephaly, DYS, dispigmentation {1441 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.5q24.3/
1-1
 		female/
newborn
 		  PBL
?dn
 		46,XX,r(11)(p15.5->p15.4::
p15.5->q24.3)
acc. to aCGH in 11pter 0.77Mb and in 11qter 4.6Mb
loss; in 11p15.5p15.4 7.4Mb gain 		GTG
aCGH
 		DYS, heart defect, hypotonia {1440 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.5q25/
1-1
 		female/
5y
 		PBL
?dn
 		46,XX,r(11)(p15.5q25)
dynamic mosaicism: 46,XX,r(11)[27]/45,XX,-11[3]
 		GTG
 		growth retardation,  dispigmentation, Wilms tumor
 {1, case RC11-14;
252}
RC/W-
11-
p15.5q25/
1-2
 		female/
5y
 		PBL
?dn
 		46,XX,r(11)(p15.5q25)
dynamic mosaicism: 46,XX,r(11)[23]/45,XX,-11[2]
 		GTG
 		DD, growth retardation, DYS.
{1, case RC11-15;
253}
RC/W-
11-
p15.5q25/
2-1
 		male/
2y
 		PBL
dn
 		46,XY,r(11)(p15.5q25)
dynamic mosaicism: 46,XY,r(11)[11]/45,XY,-11[1]
Subtelomer 11pter and 11qter absent
acc. to aCGH in 11pter loss at 0.29Mb and at 11qter 0.19Mb
duplication of paternal origin
 GTG
FISH
aCGH 		DD, microcephaly, growth retardation, DYS,
dispigmentation 		{1, case RC11-11;
251, case 1}
RC/W-
11-
p15.3q24.1/
1-1
 		n.a./
8y
 		PBL
?dn
 		46,XN,r(11)(p15.3q24.1)
acc. to aCGH in 11q 13.5Mb loss in 11qter
 		GTG
FISH
aCGH 		DD,  growth retardation, microcephaly, DYS,
dispigmentation 		{1431; 1432, case 4 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
11-
p15.3q24.2/
1-1
 		female/
13y
 		PBL
dn
 		46,XX,r(11)(p15.3q24.2)
dynamic mosaicism: 46,XX,r(11),der(21)t(11;21)(p15.3;q22.3)[158]/45,XX,-11[16]/46,XX,dr(11),
der(21)t(11;21)[5]
Subtelomer 11 pter present and 11qter absent
acc. to aCGH in 11q 8.9Mb loss
 		GTG
FISH
aCGH 		DD,  growth retardation, DYS,
dispigmentation 		{1, case RC11-16;
254}
RC/W-
11-
p15.3q24.2/
1-1
 		male/
13y
 		PBL
dn
 		46,XY,r(11)(p15.3q24.2)
dynamic mosaicism: 46,XY, r(11)[78]/45,XY,-11[18]/ 46,XY,dr(11)[4]
Subtelomer 11 pter present and 11qter absentacc. to aCGH in 11q 8.6Mb loss 		GTG
FISH
aCGH 		DD, microcephaly, growth retardation, DYS
 {1, case RC11-17;
255}