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van Cel tot Molecuul > syndromen > Flashcards

syndromen Flashcards

1
Q

Patau

A

Trisomie 13
Multipele ernstige congenitale afwijkingen, schisis, polydactylie, huiddefecten, holoprosencefalie, neonatale dood

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2
Q

Edwards

A

Trisomie 18
Multipele ernstige congenitale afwijkingen, neonatale dood

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3
Q

Down

A

Trisomie 21
Afwijkende aangezichtskenmerken, mentale retardatie

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4
Q

Turner

A

Monosomie X bij vrouw
Geringe lichaamslengte, steriel, geen ontwikkeling secundaire geslachtskenmerken, ‘webbed neck’

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5
Q

Klinefelter

A

Disomie X bij man
Grote lichaamslengte, steriel, leerproblemen, gynaecomastie

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6
Q

Triple-X

A

Trisomie X
Leerproblemen

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7
Q

XYY

A

Disomie Y bij man
Leer- en gedragsproblemen, grote lichaamslengte

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van Cel tot Molecuul (9 decks)

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