 |
 |
- CHROMOSOME 2 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- 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 |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 02- p/ 1-1 |
- |
- |
- |
-
|
- |
- |
{}
|
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 02- p2?5q3?7/ 1-1 |
male/ 0.5y |
PBL
|
dn |
46,XY,r(2)(p2?5q3?7) |
solid
staining |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-1; 13; 14, case 3} |
|
| RC/W- 02- p25q37/ 1-1 |
female/ newborn |
PBL
|
?dn |
46,XX,r(2)(p25q37) dynamic mosaicism 14-50% |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-2; 15} |
|
| RC/W- 02- p25q37/ 1-2 |
male/ 1.25y |
PBL
|
dn |
46,XY,r(2)(p25q37) dynamic mosaicism |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-3; 14, case 1} |
|
| RC/W- 02- p25q37/ 1-3 |
female/ infant |
PBL
|
dn |
46,XX,r(2)(p25q37) dynamic mosaicism 16%: 46,XX,r(2)[311]/46,XX[64]/r-var[4] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-5; 16} |
|
| RC/W- 02- p25q37/ 1-4 |
female/ 4y |
PBL
|
dn |
46,XX,r(2)(p25q37) dynamic mosaicism singles cells |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-7; 19} |
|
| RC/W- 02- p25q37/ 1-5 |
female/ newborn |
PBL
|
dn |
46,XX,r(2)(p25q37) dynamic mosaicism:46,XY,r(2)(p25q37.3)[65]/45,XY,-2[27]/46,XY[2] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-8; 20} |
|
| RC/W- 02- p25q37/ 1-6 |
female/ |
PBL |
dn |
46,XX,r(2)(p25q37) |
GTG |
DD, growth retardation, DYS |
{1189} |
|
| RC/W- 02- p25.3q37.3/ 1-1 |
female/ ~1y |
PBL
|
dn |
46,XX,r(2)(p25.3q37.3) Subtelomer 2pter and 2qter present |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-10; 22} |
|
| RC/W- 02- p25.3q37.3/ 1-2 |
male/ prenatal |
PBL |
?dn |
46,XY,r(2)(p25.3q37.3) dynamic mosaicism: 46,XY,r(2)(p25q37)[13]/45,XY,2[4]/47,XY,r(2)(p25q37)x2[2]/46,XY,dic r(2;2)(p25q37;p25q37)[1] Subtelomer 2pter and 2qter present |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-11; 23} |
|
| RC/W- 02- p25.3q37.3/ 2-1 |
male/ ~1y |
PBL
|
dn |
46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XY,r(2)(p25q37)[17]/47,XY,r(2),+r(2)[3]/46,XY[1] Subtelomer 2pter and 2qter present acc. to aCGH 0.14Mb loss at 2p and 0.15 Kb at 2q |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-13; 25} |
|
| RC/W- 02- p25.3q37.3/ 2-2 |
male/ prenatal |
AF |
dn |
46,XY,r(2)(p25.3.q37.3) Subtelomer 2pter and 2qter are lost break in 2p25.3: 3.3Mbp and 2q37.3 -4.4Mb (hg19) |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-12; 24} |
|
| RC/W- 02- p25.3q37.3/ 2-3 |
male/ newborn |
PBL
|
dn |
46,XY,r(2)(p25.3.q37.3) dynamic mosaicism: 46,XY,r(2)(p25.3q37.3)[92]/r-var[8] break in 2p25.3: 439Kb and 2q37.3 -3.4Mb (hg19) |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-14; 26} |
|
| RC/W- 02- p25.3q37.3/ 3-1 |
female/ 0.5y |
PBL
|
dn |
46,XX,r(2)(p25.3.q37.3) dynamic mosaicism: 46,XX,r(2)(p25q37)[79]/45,XX,-2[4]/r-var[17] Subtelomer 2pter is lost; subtelomere 2qter present |
GTG FISH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-9; 21} |
|
| RC/W- 02- p25.3q37.3/ 3-2 |
male/ prenatal |
AF |
dn |
46,XX,r(2)(p25.3.q37.3) dynamic mosaicism: 45,XY,-2[5]/46,XY,r(2)(p25q37)[55]. acc. to aCGH 1.623Mb loss at 2p |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{138}
|
|
| RC/W- 02- p25.3q37.3/ 3-3 |
male/ 0.3y |
AF |
?dn |
46,XY,r(2)(p25.3q37.3) acc. to aCGH ~1.6Mb loss at 2p |
GTG NGS/ CMA |
growth retardation, VSD |
{894}
|
|
| RC/W- 02- p25.3q37.3/ 4-1 |
female/ 1.5y |
PBL
|
dn |
46,XX,r(2)(p25.3q37.3) dynamic mosaicism: 46,XX,r(2)(p25q37)196]/r-var[29] break in 2q37.3 (hg19): 240,996485Mb |
GTG aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-6; 17; 18} |
|
| RC/W- 02- p25.3q37.3/ 5-1 |
female/ 10m |
PBL
|
pat:
46,XY,t(2;6)(p15;q15) |
46,XX,r(2;6) dynamic mosaicism genomic imbalance reported |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC2-4; 14, case 2} |
|
| RC/W- 02- p25.2q37.2/ 1-1 |
male/ 1y |
PBL
|
dn |
46,XY,r(2)(p25.2q33.2) dynamic mosaicism: 46,XY,r(2)[~30%]/46,XY,der(2)(qter->q33.2::p25.2->qter)[~70%] |
GTG |
DD, growth retardation, DYS |
{580}
|
|