|
Syndrom
|
Chrom. Region
|
Locus
|
Deletion mit FISH
nachweisbar in
|
| Alagille – Syndrom |
20p12 |
JAG1 |
7% |
| Angelman – Syndrom |
15q11.2 |
UBE3A |
70% |
| CHARGE – Syndrom |
8p12.1 |
CHD7 |
10% |
| 5p-minus (Cri-du-chat) – Syndrom |
5p15.2 |
CTNND2 |
85% |
| DiGeorge – Syndrom / VCFS |
22q11.2 / 10q14 |
DGCR1, DGCR2 |
90% |
| Kallmann – Syndrom |
Xp22.3 |
KAL |
7% |
| Langer-Giedion – Syndrom |
8q23.3 / 8q24.1 |
TRPS1, EXT1 |
> 95% |
| Mikrodeletion 1p36 |
1p36 |
p58 |
100% |
| Mikrodeletion 17q21 |
17q21.3 |
MAPT |
100% |
| Miller-Dieker – Syndrom |
17p13.3 |
LIS1 |
90% |
| Minderwuchs Haploinsuffizienz |
Xp22.3 |
SHOX |
7% |
| Phelan-McDermid - Syndrom |
22q13.3 |
ProSAP2/SHANK3 |
100% |
| Rubinstein-Taybi – Syndrom |
216p13.3 |
CREBBP |
10-15% |
| Saethre-Chotzen – Syndrom |
7p21.1 |
TWIST1 |
30% |
| Prader-Willi – Syndrom |
15q11.2 |
SNRPN |
75% |
| Smith-Magenis – Syndrom |
17p11.2 |
RAI1 |
100% |
| Sotos – Syndrom |
5q35 |
NSD1 |
6% |
| Steroidsulfatase – Defizienz |
Xp22.3 |
STS |
90% |
| Williams-Beuren – Syndrom |
7q11.23 |
ELN/LIMK1/CYLN2 |
95% |
| Wolf-Hirschhorn – Syndrom |
4p16.3 |
WHSC1 |
90% |
