34: Genetic diseases III

Question 1

x-linked dominant TRE disease

Answer 1

fragile X syndrome

Question 2

autosomal dominant TRE disease

Answer 2

HD

Question 3

leading cause of inherited mental impairment and the leading known single-gene cause of ASD

Answer 3

fragile X syndrome

Question 4

iheritance of fragile X syndrome

Answer 4

X linked dominant inheritance with reduced penetrance

Question 5

what and where are the repeats in fragile x syndrome

Answer 5

CGG in FMR1 gene

> 200 repeats = clinical disease

Question 6

expansion from pre- to full mutation only occurs through

Answer 6

female meiosis

Question 7

an allele in the ________ always changes in size

Answer 7

permutation range

Question 8

big ears
big upper jaw
big testicles

Answer 8

fragile x syndrome

Question 9

what is the mutation in HD

Answer 9

autosomal dominant expansion of CAG in the HD gene

Question 10

intermediate HD repeates

Answer 10

26-36

more likely to expand in offspring

Question 11

a progressive disorder of motor, cognitive, and psychiatric changes

Answer 11

HD

Question 12

chromosomal disorder casued by the presence of an extra chromosome 18 due to nodisjunction

Answer 12

edwards syndrome

Question 13

prevalence of edwards syndrome

Answer 13

1/6000

80% female

Question 14

prominent occiput
rocker bottom foot
mental retardation
microgonathia

Answer 14

edwards syndrome

Question 15

extra chromosome 13

Answer 15

patau syndrome

Question 16

prevalence of patau syndrome

Answer 16

1/15,000

Question 17

microcephaly
polydactyl
rocker bottom feet
cardiac defect

Answer 17

patau syndrome

Question 18

monosomy X

Answer 18

turner syndrome

Question 19

all turner syndrome people are

Answer 19

female

should be noted that 99% are miscarried

and mosaicism is common

Question 20

webbed neck
puffy hands and feet
low set rotated ears

Answer 20

turner syndrome

Question 21

short stature
broad webbed neck and broad chest
short 4th metacarpla

Answer 21

adult turner syndrome

Question 22

“streak ovaries”

Answer 22

turner syndrome

Question 23

most common identifiable cuase of primary amenorrhea

Answer 23

turner syndrome

Question 24

47, XXY

Answer 24

klinefelter syndrome

extra X from either father or mother

Question 25

small testes
breast development
tall stature slightly feminized

Answer 25

kleinfelter syndrome

Question 26

risk of breast carcinoma in men wit hKS may be _____ than in normal men

Answer 26

20% higher

Question 27

what deletion causes both PWS and AS

Answer 27

del 15q11

Question 28

lack the normal gene from their father

Answer 28

PW

Question 29

lakc the nroma gne from their mom

Answer 29

angelman

Question 30

truncal obesity
hypogonadism
small hands

Answer 30

PW

Question 31

wide stance
arm postiion
spasticity

Answer 31

Angelman

Question 32

severe mental retardation, no speech, severe ataxia, paroxysmal laughter

Answer 32

angelman