Autosomal Dominant

Question 1

How are autosomal dominant inheritance work?

Answer 1

ONLY way disease can be transmitted from father to son

Associated with

1. Variable expressivity- range of signs and sxs that can occur in different people with the same genetic condition
2. Possible reduced Penetrance-people with the gene who exhibit it and people who don’t
3. High resisk for spontaneous mutation with no prior family hx.

Question 2

Tuberous Sclerosis

Answer 2

Autosomal Dominant

Question 3

Achodroplasia

Answer 3

Autosomal Dominant

Question 4

Retinoblastoma

Answer 4

Autosomal Dominant

Question 5

Marfan Syndrome

Answer 5

Autosomal Dominant

Major Criteria (need >2)
1. Progressive dilation or dissection of ascending aorta
2. Lumbosacral dural ectasia
3. Ectopia lentis *upward lens)
4. 4 skeletal manifestations
-tall stature
-high arched palate-
dental crowding
-hyperextensible joints, 
-pectus abnormalities (asymmetric pectus carinatum!), arachnodaactyly
-disproportionately long extremities compared to the trunk.
5. Family or genetic history

MVP NOT one of the major critera

Question 6

Apert Syndrome

Answer 6

Autosomal Dominant

Question 7

Neurofibromatosis

Answer 7

Autosomal Dominant