Molekularzytogenetische Analyse
(FISH)| 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 | 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% |
| Prader-Willi – Syndrom | 15q11.2 | SNRPN | 75% |
| Rubinstein-Taybi – Syndrom | 16p13.3 | CREBBP | 10-15% |
| Saethre-Chotzen – Syndrom | 7p21.1 | TWIST1 | 30% |
| 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% |
