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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
Wardenburg gene/location
pax3 _ 2q35
26
MECP2
Xq28
27
Aicardi goutire Sx
neurodegen + retinal
28
Greig cephalo sx
poly syndact
29
Greig cephalo gene
GLI3
30
otopalaral digital gene
Filamin A
31
ectrodac-ectoderm-cleft
P63
32
Gorlin gene
PTCH
33
BWS cause
point mut in CDKN1C or IGF2 pat exressed
34
RS causes
10%MatUPD, hypomethylation of h19, hypometh of H19/IGF2
35
Alport gene
Col4A5
36
Alpport sx -
X linked renal,HL, vision
37
FGFR3
achondroplasoa, hypochondro, thanatro
38
FGFR2/TWIST
synostosis (crouzon >saethre chotzen)
39
Diastrohic dysplasia gene
SLC26A
40
Diastrophic dysplasia sx
hitchhiker thumb, short bones
41
X linked seizure/lissen gene
ARX
42
noonan heart sx
pulm stenosis, HCM
43
CHARGE sx
coloboma,heart,choanal, restric growth, GU, ear
44
SLO
ID, 2.3syn ptosis
45
Zellweger
VLCFA,hypotonia,epiphyseal stippling, large ant font,hepatomegaly
46
MD1 located where repeats
3'UTR
47
FA repeats located where
introns
48
FraX S blot will mis
rare point mutation or del dup outside Cggrepeat
49
ACMG endorse Fra X
no to screening but ACOG does when requested`
50
NF1 location
NF17q11.2
51
NF1 penetracen
100% cvariant expree
52
Fabry pseudo allese
use of alpha gal-a levels tough for final Dx in males not useful infemales since variable
53
Fabry consider testing in
Fhx corneal whorls or two of: sweating dec, purple, kidneyfail, burning handsfee, excerise intol, HCM
54
CFTR related disorder
less than 2 mutations w/ CF sx, swwat cl int or nl ---monitor for sx or refer to clinic
55
CFTR etabolic syndrome
hypertrypsin, less than 2 muts, repeat sweattest til r/o
56
CF pretest
carririter req and predicted RR
57
CF screen
standard 23 w/ .1>
58
CF expnaded when
in minority ethnic background
59
I148T deletrious w/
3199del if in CIS
60
if one partner w/ CF
warn about poss plus bayes risk
61
R117H 5,7,9T
R117h + 5t TG with a deleterious in trans have Panc suff CF whereas 7T asymptomatic
62
R117H after 57 9T
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
int can expand to
premut not full
64
RM causes
endo DM PCOS enciron immune iterine, chroms
65
% preg end in miscarriage
10-15%
66
% miscarries d/t chroms
50-70
67
chance of succeful preg w. anueploidy
higher than nl karyotype
68
If 3rd tri loss think
X linekd dom esp if male
69
miscarriage w/u
karyotype, Factor V leiden prothrombin
70
pseduohypoparathyroidism
pat UPD20 or mat del GNAS
71
Maternal UPD 14 (Temple Syndrome)
DD ID small ahnds hypotonia
72
Allelic heterogenity
multipe pheontype 1 gene ALL ONE FGFR2
73
LOCUS HETEROGENITY
RP -multiple regions LOST LOCUS

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