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Hematology, oncology > Fanconi anemia > Flashcards

Fanconi anemia Flashcards

1
Q

inheritance

A

recessive mostly

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2
Q

overlapping cancer risk

A

breast cancer

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3
Q

presentation

A 
Mild: MDS/AML in adolescents
IF severe:
- short stature
- hypoplastic thumbs
- microcephaly
- cafe au lait
- cognitive delays
- hypogonadism
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4
Q

diagnosis

A

chromosomal breakage study

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5
Q

basic pathophys

A

Deficiency in DNA repair

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Hematology, oncology (218 decks)

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