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Medical Genetics Flashcards

1
Q

SMA location

A

5q11

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2
Q

Huntingtons repeats

A

26nl,27-35 int, 36-39 red. pen, ,40+ full

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3
Q

Huntintons repeats

A

CAG

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4
Q

Parkinson genes risk

A

PACK2,PANK1, DJ1,VPS35

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5
Q

Parkinsons causing

A

SCNA

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6
Q

LRRK

A

parkinson risk

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7
Q

Frontotemporal degeneration

A

MAPT, C9orfF72, GRN-all AD

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8
Q

DM1 repeats

A

CTG

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9
Q

DM1 # repeats

A

38-49 pre, 50-150 mild, 1000+congenital (LD 500)

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10
Q

Merosin cong musc dystro gene

A

LAMA2 - AR

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11
Q

WAlker warburg sx

A

muscle ye brain limb girdle, lissencephaly, polymicrogyria

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12
Q

limb girdle muskle onset

A

teen

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13
Q

Fascio scapulo humeral gene

A

DUX4 zombie gene repeat contaction 1-10 dz

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14
Q

dystrophinglycanopathy gene

A

POMT FKTN (walk warb, LGMD

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15
Q

Nemaline Genes Sx

A

ACTA,CMOD3 sx: weakness

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16
Q

Core myopahty gene

A

RYR2, ACTA

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17
Q

Core myopathy Sx

A

weakness, hypotonia, gryposis

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18
Q

SMA testing via?

A

PCR d/t SMA1/2 differ by 1 bp

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19
Q

dformation

A

biomechanical compression ie potter se

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20
Q

Disruption

A

amniotic band, CP d/t big tongue

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21
Q

Klippel Field sx

A

fused cervical vertarae

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22
Q

bardet beidel sx

A

obese, RP, polydactyl

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23
Q

X linked hypohydrotic ectodermal gene

A

EDA1

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24
Q

pseudohypoparathyroid gene

A

GNAS(imprinted)

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25
Q

Wardenburg gene/location

A

pax3 _ 2q35

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26
Q

MECP2

A

Xq28

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27
Q

Aicardi goutire Sx

A

neurodegen + retinal

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28
Q

Greig cephalo sx

A

poly syndact

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29
Q

Greig cephalo gene

A

GLI3

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30
Q

otopalaral digital gene

31
Q

ectrodac-ectoderm-cleft

32
Q

Gorlin gene

33
Q

BWS cause

A

point mut in CDKN1C or IGF2 pat exressed

34
Q

RS causes

A

10%MatUPD, hypomethylation of h19, hypometh of H19/IGF2

35
Q

Alport gene

36
Q

Alpport sx -

A

X linked renal,HL, vision

37
Q

FGFR3

A

achondroplasoa, hypochondro, thanatro

38
Q

FGFR2/TWIST

A

synostosis (crouzon >saethre chotzen)

39
Q

Diastrohic dysplasia gene

40
Q

Diastrophic dysplasia sx

A

hitchhiker thumb, short bones

41
Q

X linked seizure/lissen gene

42
Q

noonan heart sx

A

pulm stenosis, HCM

43
Q

CHARGE sx

A

coloboma,heart,choanal, restric growth, GU, ear

44
Q

SLO

A

ID, 2.3syn ptosis

45
Q

Zellweger

A

VLCFA,hypotonia,epiphyseal stippling, large ant font,hepatomegaly

46
Q

MD1 located where repeats

47
Q

FA repeats located where

48
Q

FraX S blot will mis

A

rare point mutation or del dup outside Cggrepeat

49
Q

ACMG endorse Fra X

A

no to screening but ACOG does when requested`

50
Q

NF1 location

51
Q

NF1 penetracen

A

100% cvariant expree

52
Q

Fabry pseudo allese

A

use of alpha gal-a levels tough for final Dx in males not useful infemales since variable

53
Q

Fabry consider testing in

A

Fhx corneal whorls or two of: sweating dec, purple, kidneyfail, burning handsfee, excerise intol, HCM

54
Q

CFTR related disorder

A

less than 2 mutations w/ CF sx, swwat cl int or nl —monitor for sx or refer to clinic

55
Q

CFTR etabolic syndrome

A

hypertrypsin, less than 2 muts, repeat sweattest til r/o

56
Q

CF pretest

A

carririter req and predicted RR

57
Q

CF screen

A

standard 23 w/ .1>

58
Q

CF expnaded when

A

in minority ethnic background

59
Q

I148T deletrious w/

A

3199del if in CIS

60
Q

if one partner w/ CF

A

warn about poss plus bayes risk

61
Q

R117H 5,7,9T

A

R117h + 5t TG with a deleterious in trans have Panc suff CF whereas 7T asymptomatic

62
Q

R117H after 57 9T

A

b. Reflx to TG T size when R117H found but not in absence of R117H
c. Not TG11 but TG12, TG13 in presence of 5T in trans to another mut can cause higher sweat chl

63
Q

int can expand to

A

premut not full

64
Q

RM causes

A

endo DM PCOS enciron immune iterine, chroms

65
Q

% preg end in miscarriage

66
Q

% miscarries d/t chroms

67
Q

chance of succeful preg w. anueploidy

A

higher than nl karyotype

68
Q

If 3rd tri loss think

A

X linekd dom esp if male

69
Q

miscarriage w/u

A

karyotype, Factor V leiden prothrombin

70
Q

pseduohypoparathyroidism

A

pat UPD20 or mat del GNAS

71
Q

Maternal UPD 14 (Temple Syndrome)

A

DD ID small ahnds hypotonia

72
Q

Allelic heterogenity

A

multipe pheontype 1 gene ALL ONE FGFR2

73
Q

LOCUS HETEROGENITY

A

RP -multiple regions LOST LOCUS

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