Noonan syndrome Flashcards
1
Q
inheritance
A
Autosomal dominant
2
Q
Karyotype
A
normal
3
Q
On what chromosome does the defective gene lie?
A
chromosome 12
4
Q
Clinical features (much like a Male turners syndrome)
A
webbed neck
widely-spaced nipples
short stature
pectus carinatum and excavatum
ptosis
triangular-shaped face
low-set ears
5
Q
Coagulation problem associated with noonan syndrome
A
factor XI deficiency
6
Q
Cardiac condition associated with noonan syndrome
A
pulmonary valve stenosis
7
Q
A
