Autosomal Dominant Flashcards Preview

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Flashcards in Autosomal Dominant Deck (10):
1

Achondroplasia

autosomal dominant
most common skeletal dyplasia

2

Achodroplasia
frequency

1/15,000
1/40,000

3

Achondroplasia
new mutation rate

80%

4

Achodroplasia
is homozygous domiinant compatible with lfe?

no

5

Achodroplasia
penetrance

100%

6

What explains an autosomal dominant disorder seen in a child without affected parents

De novo

7

Clinical manifestations of achondroplasia
Stature?

Small stature

8

Clinical manifestation of achondroplasia
Limbs and digits?

Rhizomelic limb shortening
shorts fingers
genu varum (bowing of legs)

9

Tuberous sclerosis
Clinical criteria require?

Two major features or one major feature with 2 minor features

10

Tuberous sclerosis
What are major features?

Angiofibromas
Cardiac rhabodymyoma