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GC cards take 2 > cytogenetics > Flashcards

cytogenetics Flashcards

1
Q

21;22 translocation DS risk

A

6%

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2
Q

meoisis in female

A

starts 4mo, 1st division at ovulation, 2nd at fertilization

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3
Q

maternal errors

A

3/4th are M1

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4
Q

mosaic etiology

A

if tri w/ rescue there is UPD risk

ifnormal w/ndh no UPD risk

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5
Q

UPD mechanisms

A

crossing over somatic, trisomy rescue(hetero), monosomy rescue(iso), gamete competion

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6
Q

partial mole

A

usual triploid

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7
Q

complete mole

A

euploid male, if female risk for choroicarcinoma

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8
Q

RR for +21

A

under 30 is 1-2% over age

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9
Q

risk w/ deletion worse if

A

distal smallers

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10
Q

tolerate liveborn

A

8 9 13 18 21, 4p, 5p, 18p, 18q

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11
Q

ring chroms-

A

growth reta, 99% inhertied assoc w/ UPD or trisomy rescue

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12
Q

jacobsen synm

A

11q

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13
Q

RB risk loca

A

13q14.2

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14
Q

XIST loc

A

Xq13, xist expressed from inactive X

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15
Q

AZF loc

A

Yq11.2 - make infertility

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16
Q

46X iXq10

A

long arm isochrom looks like turners

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17
Q

CMA cant see

A

inv, low lvl mosaic, inversion

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18
Q

coeffic of inbreeding

A

F, portion that is IBD, cousins 1/16 or 6.25

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19
Q

ADA protections?

A

disbaility but not unexpressed

20
Q

GINA

A

insuraer cant require gne info for elegibility, coverage, premium setting, cant compel, not for employment decisions

21
Q

GINA exempt

A

VA, military feds, indian health, luxury insurance, state>fed,

22
Q

WES rec’d for

A

nonspecific pheno, Fhx or genetic heterogeneity

23
Q

WES mandatory

A

minimum list, ID as pathogenic, pre/post cousneling , can opt out

24
Q

WES infromed consent

A

scope, describe, benefit, risk, vountary, alternatives, confidential, future use, incdentals

25
Q

most common cause of TOF

A

22q

26
Q

22q etilology

A

non allelic homologus recombiantion

27
Q

3:1 segregation will have

A

partial monosomy or triosomy

28
Q

balance translocation located where on chrom

A

distally more at risk

29
Q

insertions risk for RR

A

32-36 high as 50%

30
Q

XXY RR

A

3%

31
Q

XXX XXY errors

A

M1 3/4THS

32
Q

Greig Cephalosyndactyly cyto loc

A

del 7p13

33
Q

Saethre Chotzen cyto location

A

del 7p21.1

34
Q

alagille loc cyto

A

20p

35
Q

transient neonatal DM d/t?

A

upd6pat

36
Q

igf2 expressed on? does?

A

paternal copy| promotes growth

37
Q

H19 expressed on? does

A

maternal? supresses growth

38
Q

CDKN1C expressed on

A

maternall? supresses growth

39
Q

Lit1 expressed on

A

paternal

40
Q

pat UPD BWS/RS?

A

BWS 11p15 IGF2LIT1 on, H19/CDKN1C off

41
Q

mat UPD BWS/RS

A

RS 11p15 GF2LIT1 off, H19/CDKN1C on

42
Q

IC mutations pedigree PWS

A

father has mut from mother(he is normal) >males form this could be affected

43
Q

BWS domiannt mutation pedigree

A

veritcal, only children of female heterozygotes

44
Q

trisomy 21 risk at 35

A

1 in 338

45
Q

trisomy risk at 20

A

1 in1440

46
Q

trisomy risk at 40

A

1 in 84

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