Prevalence Flashcards by Ths Egl | Brainscape

Q

Mucovicidose

A

1/2500

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Q

spina bifida

A

1/1000

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Q

fente labio palatine

A

1/1000

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Q

neurofibromatose de type 1

A

1/3000

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Q

hypercholestérolémie familiale

A

1/500

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Q

achondroplasie

A

1/15000 à 1/30000

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Q

phénylcétonurie

A

1/10000 à 1/15000

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Q

hémophilie A

A

1/5000

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Q

hémophilie B

A

1/30000

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Q

syndrome de l’X fragile

A

gars : 1/4000

fille 1/8000

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Q

Prader Willi

A

1/10000 à 1/15000

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Q

Angelman

A

1/12000 à 1/20000

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Q

trisomie 21

A

1/1600

1/500 sans DPI

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Q

trisomie 18

A

1/6000 à 1/8000

1/2500 à 1/2600 en comptant les pertes fœtales

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Q

Syndrome de Turner

A

1/2500

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Q

trisomie 13

A

1/8000 à 1/15000

Q

Fréquence translocation réciproque

A

1/1200

Concerne 1/600 couples

Q

Risque de déséquilibre d’une translocation réciproque ?

A

De 0 à 50%

Q

syndrome de délétion 22q11.2

A

1/2000 à 1/4000