From q Sets

Question 1

meckel gruber sx

Answer 1

cystic renal, polydac, ciliary issues

Question 2

Deformation

Answer 2

External forces

Question 3

Malformation

Answer 3

Due to genetic epigenetic or environmental factor that alters development

Question 4

Disruption

Answer 4

Development halted prematurely

Question 5

Dysplasia

Answer 5

Structure underlying is not normal i.e. skeletal dysplaai

Question 6

Teacher role

Answer 6

Primary instruction

Question 7

Counseling role

Answer 7

Exploration n self awareness

Question 8

Evaluation role

Answer 8

Critiquing n feedback

Question 9

Consulting role

Answer 9

Collaborative with focus on students patients needs. Facilitates effective planning

Question 10

positive predictive value

Answer 10

true + / total # of +

Question 11

sensitivity

Answer 11

true positive / total # affected

Question 12

specificity

Answer 12

true - / total not affected

Question 13

pleiotropy

Answer 13

multiple phenotypic effects of a single allele

Question 14

locus heterogenity example

Answer 14

condition caused by many differnt loci ie.RP

Question 15

allelic heterogenity example

Answer 15

variable phenotypes in FGFR2 genein achondroplasia

Question 16

genocopy

Answer 16

a genotype that determines a phenotype very close to a diff. genotype

Question 17

phenocopyu

Answer 17

environmental factor creating a phenotype much liek a partiular genotype

Question 18

most common trisomy in SABs

Answer 18

T16

Question 19

most common chromosme abnl in liveborn

Answer 19

+21

Question 20

most common chromosome abnl in preg’s

Answer 20

45,X

Question 21

pallister hall

Answer 21

polydactly cleft

Question 22

countertransference

Answer 22

mistaking your feelings for the clients

Question 23

internal organs formed when?

Answer 23

4-6wks

Question 24

digits+facial features develop

Answer 24

8-12 wks

Question 25

% of pregs endings in miscarriage

Answer 25

10-15%

Question 26

% of miscarriage with chromosomal abnl

Answer 26

50-70%

Question 27

MLH1 PMS2 missing, next step?

Answer 27

BRAF for hypermethylation

Question 28

Colon Cancer X criteria

Answer 28

Amsterdam met but no MSI or staining

Question 29

MYH associated cancers?

Answer 29

col, ov , baldder, skin

Question 30

PWS mechanism

Answer 30

70% pat del, 25% UPD 1-3% imprinting center

Question 31

AngelmanMechanism

Answer 31

70% Matdel, 3-5 matupd 7-9 impri10 UBE3A del

Question 32

Russel Silver mechanism

Answer 32

Mat UPD 7-10% loss of DMR1 methylation 50%

Question 33

Russel Silver location

Answer 33

11p15.5-maternal expression of H19 on both chr

Question 34

BWS mchanism part 1

Answer 34

``` gainDMR1 methylation (both IGF2 on)5% lossDMR2 methylation60% ```

Question 35

BWS mechanismpart 2

Answer 35

CDKN1C mut: /pat UPD 11p15.5 =20%

Question 36

markers earlier than expected

Answer 36

same as DS

Question 37

markers laster than expected

Answer 37

opposite of DS

Question 38

PaPPA in DS

Answer 38

lower in most 60%

Question 39

in FraX fully affected females POI is___

Answer 39

not there

Question 40

unbal translocation riskis

Answer 40

10-15% for mom, 1% dad except q21q21

Question 41

chondroplasia punctata inheritance

Answer 41

XLR

Question 42

hydantoin

Answer 42

Dysmorphicface, hypoplastic nail, growth and DD

Question 43

carried into innner self counter xferance

Answer 43

associative counter transferance

Question 44

assumtive counter transferance

Answer 44

projective counter transferance

Question 45

predictive testing

Answer 45

performed in symptomatic individual

Question 46

presymptomatic

Answer 46

performed in presymtpomatic indv

Question 47

IRB protections of deceased?

Answer 47

does not protect

Question 48

displacement

Answer 48

shifting target to safer 1

Question 49

CLCP type

Answer 49

80%isolated 20 syndromic

Question 50

CPC marker of

Answer 50

18 NOT 21

Question 51

NF2 location

Answer 51

22q

Question 52

teratogens assoc w/

Answer 52

dose response

Question 53

HD repeat size max nl

Answer 53

35

Question 54

SLO Sx

Answer 54

hypospadias DD

Question 55

PHL Chr

Answer 55

9:22

Question 56

coefficent of kinship

Answer 56

1/2 ^n ,n=steps in path btwn idn

Question 57

Russel Silver missing mat/pat?

Answer 57

Pat copy IC defect 50/or mat UPD10%

Question 58

BWS missing pat/mat

Answer 58

mat copy-IC defect/UPD of pat, cdkn1c

Question 59

campomelic look for what

Answer 59

XY sex reversal

Question 60

majority of ndj mat occur in m1/m2

Answer 60

M1

Question 61

DMD testing

Answer 61

deldup then seq

Question 62

congential adrenal hyperplasia by

Answer 62

21 hydroxylase def

Question 63

DMD how many new mut

Answer 63

1/3 new mut

Question 64

simpson golabi behmel inheritnace

Answer 64

XL

Question 65

aarskog inheritance

Answer 65

XL

Question 66

RS what gene is off

Answer 66

IGF2 off