 |
 |
- CHROMOSOME 11 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- 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 Wilms tumor in case deletion in 11p: includes corresponding critical region in 11p13 - hg19: 32,409,321-32,457,085 Mb |
| 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)(p15.5q25)[92]/45,XX,-11[6]/46,XX,dic r(11;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)(p15.5q25)[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)(p15q25)[64]/47,XXX,r(11)(p15q25)[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)(p15q25)[196]/45,XX,-11[2]/46,XX[2] |
GTG |
DD, microcephaly, growth
retardation, dispigmentation
mild cogn. impairmentg only |
{1, case
RC11-8; 248} |
|
| RC/O- 11- p15.5q25/ 1-1 |
female/ prenatal |
PBL
|
dn |
46,XX,r(11)(p15.5q25) dynamic mosaicism: 46,XX,r(11)(p15q25)[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)(p15.5q25)[90]/45,XY,-11[8]/47,XY,r(11),+r(11)[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)(p15.5q25)[16]/46,XX,r(11;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} |
|
| 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- p15q25/ 1-1 |
female/ 0.25y |
PBL
|
dn |
46,XX,r(11)(p15q25) dynamic mosaicism: 46,XX,r(11)(p15q25)[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)(p15q25)[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)(p15q24) [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)(p15.5q25)[86]/45,XX,-11[8]/46,XX,dic r(11;11)[4] |
GTG |
DD, microcephaly, growth retardation,
DYS, dispigmentation |
{1, case
RC11-4; 245, case 1} |
|
| RC/W- 11- p15.5q25/ 1-1 |
female/ 5y |
PBL
|
?dn |
46,XX,r(11)(p15.5q25) dynamic mosaicism: 46,XX,r(11)(p15.5q25)[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)(p15.5q25)[23]/45,XX,-11[2] |
GTG |
DD, growth retardation, DYS. |
{1, case
RC11-15; 253} |
|
| RC/W- 11- p15.q255/ 2-1 |
male/ 2y |
PBL
|
dn |
46,XY,r(11)(p15.5q25) dynamic mosaicism: 46,XY,r(11)(p15.5q25)[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- p15.5q23.3/ 1-1 |
female/ 3y |
PBL
|
dn |
46,XX,r(11)(p15.5q23.3) dynamic mosaicism: 46,XY,r(11)(p15.5q23.3)[34]/45,XY,-11[2] Subtelomer 11pter present and 11qter absent acc. to aCGH in 11q 14.1Mb loss |
GTG FISH aCGH |
DD, microcephaly, growth retardation,
DYS, dispigmentation |
{1, case
RC11-12; 251, case 2} |
|
| 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)(p15.3q24.2),der(21)t(11;21)(p15.3;q22.3)[158]/45,XX,-11[16]/ 46,XX,r(11;11)(p15.3q24.2;p15.3q24.2), der(21)t(11;21)(p15.3;q22.3)[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)(p15q24.2)[78]/45,XY,-11[18]/ 46,XY,dic r(11;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} |
|