1.2.1 Numerische Chromosomenaberrationen

1.2.1.1 Morbus Down

1.2.1.2 Pätau-Syndrom (Trisomie 13)

1.2.1.3 Edwards-Syndrom (Trisomie 18)

1.2.1.4 Ullrich-Turner-Syndrom (45, X)

1.2.1.5 Triple-X-Konstitution (47, XXX)

1.2.1.6 XXXX-Syndrom (48, XXXX)

1.2.1.7 XXXXX-Syndrom (49,XXXX)

1.2.1.8 Klinefelter-Syndrom (47, XXY)

1.2.1.9 XYY-Konstitution

1.2.2 Strukturelle Chromosomenaberrationen

1.2.2.1 Partielle Monosomien

1.2.2.1.1 Cri-du-chat-Syndrom

1.2.2.1.2 Wolf-Hirschhorn-Syndrom

1.2.2.2 Mikrodeletionen

1.2.2.2.1 Prader-Willi-Syndrom

1.2.2.2.2 Angelman-Syndrom

1.2.2.2.3 Williams-Beuren-Syndrom

1.2.2.2.4 DiGeorge-Syndrom

1.2.2.2.5 Langer-Giedion-Syndrom

1.2.2.2.6 WAGR-Syndrom

1.2.2.2.7 Smith-Magenis-Syndrom

1.2.2.2.8 Miller-Dieker-Syndrom

1.2.2.2.9 Rubinstein-Taybi-Syndrom

1.2.2.2.10 Alagille-Syndrom

1.2.3 Besondere chromosomale Störungen

1.2.3.1 Uniparenterale Disomie und Genomic Imprinting

1.2.3.1.1 Russell-Silver-Syndrom

1.2.3.1.2 Beckwith-Wiedemann-Syndrom

1.2.3.1.3 Prader-Willi-Syndrom

1.2.3.1.4 Angelman-Syndrom

1.2.3.1.5 Rett-Syndrom

1.2.3.2 Antizipation

1.2.3.2.1 Fragiles X-Syndrom