cytogenetics

Question 1

21;22 translocation DS risk

Answer 1

6%

Question 2

meoisis in female

Answer 2

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

Question 3

maternal errors

Answer 3

3/4th are M1

Question 4

mosaic etiology

Answer 4

if tri w/ rescue there is UPD risk

ifnormal w/ndh no UPD risk

Question 5

UPD mechanisms

Answer 5

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

Question 6

partial mole

Answer 6

usual triploid

Question 7

complete mole

Answer 7

euploid male, if female risk for choroicarcinoma

Question 8

RR for +21

Answer 8

under 30 is 1-2% over age

Question 9

risk w/ deletion worse if

Answer 9

distal smallers

Question 10

tolerate liveborn

Answer 10

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

Question 11

ring chroms-

Answer 11

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

Question 12

jacobsen synm

Answer 12

11q

Question 13

RB risk loca

Answer 13

13q14.2

Question 14

XIST loc

Answer 14

Xq13, xist expressed from inactive X

Question 15

AZF loc

Answer 15

Yq11.2 - make infertility

Question 16

46X iXq10

Answer 16

long arm isochrom looks like turners

Question 17

CMA cant see

Answer 17

inv, low lvl mosaic, inversion

Question 18

coeffic of inbreeding

Answer 18

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

Question 19

ADA protections?

Answer 19

disbaility but not unexpressed

Question 20

GINA

Answer 20

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

Question 21

GINA exempt

Answer 21

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

Question 22

WES rec’d for

Answer 22

nonspecific pheno, Fhx or genetic heterogeneity

Question 23

WES mandatory

Answer 23

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

Question 24

WES infromed consent

Answer 24

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

Question 25

most common cause of TOF

Answer 25

22q

Question 26

22q etilology

Answer 26

non allelic homologus recombiantion

Question 27

3:1 segregation will have

Answer 27

partial monosomy or triosomy

Question 28

balance translocation located where on chrom

Answer 28

distally more at risk

Question 29

insertions risk for RR

Answer 29

32-36 high as 50%

Question 30

XXY RR

Answer 30

3%

Question 31

XXX XXY errors

Answer 31

M1 3/4THS

Question 32

Greig Cephalosyndactyly cyto loc

Answer 32

del 7p13

Question 33

Saethre Chotzen cyto location

Answer 33

del 7p21.1

Question 34

alagille loc cyto

Answer 34

20p

Question 35

transient neonatal DM d/t?

Answer 35

upd6pat

Question 36

igf2 expressed on? does?

Answer 36

paternal copy| promotes growth

Question 37

H19 expressed on? does

Answer 37

maternal? supresses growth

Question 38

CDKN1C expressed on

Answer 38

maternall? supresses growth

Question 39

Lit1 expressed on

Answer 39

paternal

Question 40

pat UPD BWS/RS?

Answer 40

BWS 11p15 IGF2LIT1 on, H19/CDKN1C off

Question 41

mat UPD BWS/RS

Answer 41

RS 11p15 GF2LIT1 off, H19/CDKN1C on

Question 42

IC mutations pedigree PWS

Answer 42

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

Question 43

BWS domiannt mutation pedigree

Answer 43

veritcal, only children of female heterozygotes

Question 44

trisomy 21 risk at 35

Answer 44

1 in 338

Question 45

trisomy risk at 20

Answer 45

1 in1440

Question 46

trisomy risk at 40

Answer 46

1 in 84