genetics

Question 1

what is an example of a condition caused by extra/missing chromosomes?

Answer 1

down syndrome

Question 2

what is an ex of a condition cause by deletions/microdeletions of chromosomes?

Answer 2

williams syndrome

Question 3

what are single gene connective tissue disorders?

Answer 3

marfan syndrome
ehlers danlos syndrome
osteogenesis imperfecta

Question 4

what are single gene neuromuscular disorders?

Answer 4

duchenne muscular dystrophy

Question 5

is marfan syndrome autosomal dominant?

Answer 5

yes

Question 6

what are two of the main cardiovascular concerns in marfan syndrome?

Answer 6

mitral valve prolapse

aortic root dilatation at sinuses of valsalva

Question 7

if a condition is autosomal dominant, what is the % risk of passing it on to a child?

Answer 7

50%

Question 8

cystic fibrosis, autosomal recessive vs. autosomal dominant?

Answer 8

recessive

Question 9

what is the slow type of gene sequencing called?

Answer 9

sanger
can only analyze one gene at a time
expensive

Question 10

what is the rapid type of gene sequencing called?

Answer 10

next gen

Question 11

what is a likely benign variant?

Answer 11

there is a significant, but not conclusive evidence there is not a risk to develop a particular disease, will not alter screening/management, some labs don’t report these results

Question 12

why would someone use whole exome sequencing?

Answer 12

panels not informative, no panel seems appropriate

can find unexpected results