Genetic syndromes Flashcards Preview

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Flashcards in Genetic syndromes Deck (43):
1

Huntington's dz chromosome

CAG repeat - chromosome 4

2

HD mode of inheritance

auto dom

3

tuberous sclerosis inheritance

auto dom

4

NF1 gene

AD; chrom 17

5

NF2 gene

AD; chrom 22

6

Williams syndrome

chromosome 7

7

Wilson's dz

chromosome 13 - gene ATP7B

8

metachromatic leukodystrophy

AR, disorder of myelin, chromosome 22, arylsulfatase A

9

Tay Sachs

AR, chromosome 15, hexosaminidase A deficiency

10

Krabbe's disease

AR, chromosome 14, galactocerebrosidase beta-galactosidase

11

Lesch-Nyhan syndrome

XR, hypoxanthine-guanine phosphoribosyltransferase

12

Gaucher's disease

AR, chromosome 1, beta glucosidase deficiency

13

von Hippel Lindau

AD, chromosome 3, retinal and CNS tumors

14

most common tumor site in VHL

cerebellum

15

Ataxia-telangiectasia

AR, ataxia around age 1

16

Fabry's dz

X linked lysososomal storage dz, alpha galactosidase A

17

Freidrich's ataxia

AR, chromosome 9, GAA repeat

18

Myotonic dystrophy

AD, chromosome 19, CTG repeat

19

trisomy 18

congenital heart dz, polycystic kidneys, MR, microcephaly

20

cri-du-chat syndrome

chromosome 5

21

Prader Willi

chromosome 15

22

what is the genetic defect in fragile X?

CGG repeat

23

benign familial neonatal convulsions

AD, voltage gated calcium channels

24

PKU

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

25

elfin facies, friendly, gifted musically, short, MR

Williams syndrome (chromosome 7-deletion)

26

obligation to work in the patient's best interests

fiduciary duty

27

Wilson's dz

AR, chromosome 13

28

Niemann Pick disease

AR, sphingomyelinase deficiency

29

Marfan's syndrome

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

30

potassium sensitive periodic paralysis

mutations in sodium channel, chromosome 17

31

hemicrania continua tx

indomethacin

32

JC virus type

polyomavirus

33

who developed attachment theory

John Bowlby

34

adrenoleukodystrophy

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

35

myoclonic dystrophy

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

36

genetic theory of SCZ

dysbindin (6) and neuregulin-1 (8)

37

FTD genetics

chromosome 17

38

Alzheimer's genetics

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

39

identified two distinct temperaments (inhibited vs uninhibited)

Kagan

40

criteria for emancipation

married, military, self-supporting, a parent

41

DBS for OCD targets

STN and nucleus accumbens

42

depakote mechanism

increase GABA

43

carbamazepine MOA

inhibits voltage gated Na channels, presynaptic Na, and glutamate