10 - Genetic Testing

Question 1

minimum res of g band chromosome analysis

Answer 1

5 Mb

Question 2

what can FISH detect?

Answer 2

deletions, duplications, fusions

Question 3

what is rapid FISH (Aneuvysion) useful for?

Answer 3

can detect aneuploidy of 13, 18, 21, x, y

takes only 2-3 d

Question 4

resolution of CMA

Answer 4

down to 5-10 Kb

Question 5

what does SNP array detect?

Answer 5

detects areas of absence of heterozygosity (indicative of deletion, shared ancestry, uniparental disomy)

Question 6

what is main mech for maternal uniparental disomy?

Answer 6

trisomy rescue- can detect that it didn’t get a paternal gene so it replicates maternal one

Question 7

what genetic testing method is used for triplet repeat diseases?

Answer 7

southern blot

Question 8

Noonan syndrome

Answer 8

AD
hypertelorism, downward eyeslant, low set post rotated ears, short stature, short neck w/ webbing or skin redundancy, cardiac anomalies, epicanthal folds, deafness, motor delay, bleeding diathesis

Question 9

Glutaric Aciduria type 1

Answer 9

AR

presents at 6-18 mo w/ macrocephaly, poor feeding, mild hypotonia, dystonia, dyskinesia