genetic DO

Question 1

AD

Answer 1

Tuberous sclerosis (in 1/3 of cases, but many sporadic)
neurofibromatosis
porphyria
gardener's dis
marfan's (but no MR)

Question 2

prader wili

Answer 2

lack of paternal segment of chromosome 15

Micro deletion. Angel an is from the mother

Question 3

X linked recessive

Answer 3

Lesch nyhan. Purine metabolism. Hyperdrive is.

Fragile x

Question 4

X linked dominant

Answer 4

Rhette’s? Though u don’t transmit it.
Mekp2 gene
Spontaneous mutation

Question 5

Down syndrome translocation

Answer 5

If family hx and anxious even though less than 1% chance of having trisomy, still should councel and test
If u are a carrier: 33% chance u’ll have a child

Question 6

Tuberous sclerosis

Answer 6

Ash leaf spots with wood lamp

AD

Question 7

geetic anticipation

Answer 7

i. genetic anticipation: the age of onset of the illness decrease, and its severity increases across generations; in most cases this has been related to expansion of trinucleotide repeats

Question 8

trinucleotide repeats

Answer 8

1. CGG: fragile X
2. CTG: myotonic dystrophy
3. CAG: Huntington’s, Macho Joseph, Spino-bulbar-muscular dystrophy

Question 9

AR

Answer 9

wilson

PKU