Autosomal Dominant Flashcards
1
Q
Achondroplasia
A
autosomal dominant
most common skeletal dyplasia
2
Q
Achodroplasia
frequency
A
1/15,000
1/40,000
3
Q
Achondroplasia
new mutation rate
A
80%
4
Q
Achodroplasia
is homozygous domiinant compatible with lfe?
A
no
5
Q
Achodroplasia
penetrance
A
100%
6
Q
What explains an autosomal dominant disorder seen in a child without affected parents
A
De novo
7
Q
Clinical manifestations of achondroplasia
Stature?
A
Small stature
8
Q
Clinical manifestation of achondroplasia
Limbs and digits?
A
Rhizomelic limb shortening shorts fingers genu varum (bowing of legs)
9
Q
Tuberous sclerosis
Clinical criteria require?
A
Two major features or one major feature with 2 minor features
10
Q
Tuberous sclerosis
What are major features?
A
Angiofibromas
Cardiac rhabodymyoma
