Genetic syndromes

Question 1

Huntington’s dz chromosome

Answer 1

CAG repeat - chromosome 4

Question 2

HD mode of inheritance

Answer 2

auto dom

Question 3

tuberous sclerosis inheritance

Answer 3

auto dom

Question 4

NF1 gene

Answer 4

AD; chrom 17

Question 5

NF2 gene

Answer 5

AD; chrom 22

Question 6

Williams syndrome

Answer 6

chromosome 7

Question 7

Wilson’s dz

Answer 7

chromosome 13 - gene ATP7B

Question 8

metachromatic leukodystrophy

Answer 8

AR, disorder of myelin, chromosome 22, arylsulfatase A

Question 9

Tay Sachs

Answer 9

AR, chromosome 15, hexosaminidase A deficiency

Question 10

Krabbe’s disease

Answer 10

AR, chromosome 14, galactocerebrosidase beta-galactosidase

Question 11

Lesch-Nyhan syndrome

Answer 11

XR, hypoxanthine-guanine phosphoribosyltransferase

Question 12

Gaucher’s disease

Answer 12

AR, chromosome 1, beta glucosidase deficiency

Question 13

von Hippel Lindau

Answer 13

AD, chromosome 3, retinal and CNS tumors

Question 14

most common tumor site in VHL

Answer 14

cerebellum

Question 15

Ataxia-telangiectasia

Answer 15

AR, ataxia around age 1

Question 16

Fabry’s dz

Answer 16

X linked lysososomal storage dz, alpha galactosidase A

Question 17

Freidrich’s ataxia

Answer 17

AR, chromosome 9, GAA repeat

Question 18

Myotonic dystrophy

Answer 18

AD, chromosome 19, CTG repeat

Question 19

trisomy 18

Answer 19

congenital heart dz, polycystic kidneys, MR, microcephaly

Question 20

cri-du-chat syndrome

Answer 20

chromosome 5

Question 21

Prader Willi

Answer 21

chromosome 15

Question 22

what is the genetic defect in fragile X?

Answer 22

CGG repeat

Question 23

benign familial neonatal convulsions

Answer 23

AD, voltage gated calcium channels

Question 24

PKU

Answer 24

AR, cannot convert phenylalanine to tyrosine (hydroxyls enzyme).

Question 25

elfin facies, friendly, gifted musically, short, MR

Answer 25

Williams syndrome (chromosome 7-deletion)

Question 26

obligation to work in the patient’s best interests

Answer 26

fiduciary duty

Question 27

Wilson’s dz

Answer 27

AR, chromosome 13

Question 28

Niemann Pick disease

Answer 28

AR, sphingomyelinase deficiency

Question 29

Marfan’s syndrome

Answer 29

AD, defects in fibrillin; NOT associated with MR or autism

Question 30

potassium sensitive periodic paralysis

Answer 30

mutations in sodium channel, chromosome 17

Question 31

hemicrania continua tx

Answer 31

indomethacin

Question 32

JC virus type

Answer 32

polyomavirus

Question 33

who developed attachment theory

Answer 33

John Bowlby

Question 34

adrenoleukodystrophy

Answer 34

XR, dynsfxn of peroxisomal fact acid beta oxidation; gene ABCD1

Question 35

myoclonic dystrophy

Answer 35

AD, trinucelotide repeat, frontal heir loss, dystrophy, cataracts, heart conduction problems

Question 36

genetic theory of SCZ

Answer 36

dysbindin (6) and neuregulin-1 (8)

Question 37

FTD genetics

Answer 37

chromosome 17

Question 38

Alzheimer’s genetics

Answer 38

pre-senilin 1 (chr 14); pre-senilin 2 (chr 1); APOe4 (chr 19); APP (chr 21)

Question 39

identified two distinct temperaments (inhibited vs uninhibited)

Answer 39

Kagan

Question 40

criteria for emancipation

Answer 40

married, military, self-supporting, a parent

Question 41

DBS for OCD targets

Answer 41

STN and nucleus accumbens

Question 42

depakote mechanism

Answer 42

increase GABA

Question 43

carbamazepine MOA

Answer 43

inhibits voltage gated Na channels, presynaptic Na, and glutamate