Gametopathie Flashcards

1
Q

Bs für numerische Autosomenabberation

A

Trisomie (21, 18, 13)

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2
Q

Bs für strukturelle Autosomenabberation

A

Cri du Chat syn
de Gouchy syn
Mykrodeletion Syn

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3
Q

Bs für Gonosomen abheration

A

Klinefelder Syn

Turner Syn

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4
Q

Turner - KlinefelderSyn: Welche Chr + Phenotyp

A

Turner : XO weiblich

Klinefelder: XXY männlich

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5
Q

Typ, Bs für Autosomaldominant/ Rezessiv Erbgang

A
Typ: Monogene ErbKHT (Mut an einer bestimmten Gen)
-Autosomal dominant:
Neurofibromatose
Hyperlypoproteinämie
- Autosomal Rezessiv
Mukoviszidose
Phenylketonurie
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6
Q

Bs für Gonosomal rezessiv KHT

A

Hämophilie A

Muskeldystrophie Duchêne

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7
Q

Def+ Bs für Multifaktorielle ErbKHT

A

Genetische Veranlagung + auszehre Faktoren

BS: Diabetes mellitus
Adipositas
Schwachsinn

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