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Flashcards in Genetics Deck (11):
1

If you have a sibling with CF (your ok) what are the chances you pass on CF

You have a 2/3 chance of being a carrier

2

Cerebellar ataxia, telangiectasia, and increase pulm infections are the triad of

Ataxia telangiectasia

3

Genetics of ataxia telangiectasia

AR

ATM gene - works in DNA break repair

4

Immune issues of ataxia telangiectasia

Iga deficiency

5

What is the most abundant amino acid in collagen

Glycine

6

Where is the VHL mutation

Chromosome p3

7

Where is the wt1 mutation

Chromosome 11

8

Where is the RB gene

Chromosome 13

9

What is the definition of herteroplasmy

Mitochondria inheritance

Can have bistable presentation (one kid worse disease than another)

10

What is the defect in fragile x

CGG repeat expansion on X in FMR1 gene

11

Exam findings of fragile X

Dysmorphic face
Large jaw, protruding ears, macroorchidism