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Institut für Humangenetik

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Molekularzytogenetische Analyse (FISH) bei folgenden Krankheitsbildern:
SyndromChrom. RegionLocusDeletion mit FISH nachweisbar in
Alagille – Syndrom 20p12 JAG17%
Angelman – Syndrom 15q11.2 UBE3A 70%
CHARGE – Syndrom 8p12.1 CHD7 10%
5p-minus (Cri-du-chat) – SyndromSyndrom 5p15.2 CTNND2 85%
DiGeorge – Syndrom / VCFS 22q11.2 / 10q14DGCR1, DGCR290%
Kallmann – Syndrom Xp22.3 KAL 7%
Langer-Giedion – Syndrom8q23.3 / 8q24.1 TRPS1, EXT1 > 95%
Mikrodeletion 1p36 1p36 p58 100%
Mikrodeletion 17q21 17q21.3MAPT100%
Miller-Dieker – Syndrom 17p13.3 LIS1 90%
Minderwuchs Haploinsuffizienz Xp22.3 SHOX 7%
Phelan-McDermid - Syndrom 22q13.3ProSAP2/SHANK3 100%
Prader-Willi – Syndrom 15q11.2 SNRPN 75%
Rubinstein-Taybi – Syndrom 16p13.3 CREBBP 10-15%
Saethre-Chotzen – Syndrom 7p21.1TWIST1 30%
Smith-Magenis – Syndrom 17p11.2 RAI1 100%
Sotos – Syndrom 5q35 NSD1 6%
Steroidsulfatase – Defizienz Xp22.3 STS 90%
Williams-Beuren – Syndrom7q11.23ELN/LIMK1/CYLN2 95%
Wolf-Hirschhorn – Syndrom 4p16.3 WHSC1 90%