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Genetic Counseling > From q Sets > Flashcards

From q Sets Flashcards

1
Q

meckel gruber sx

A

cystic renal, polydac, ciliary issues

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2
Q

Deformation

A

External forces

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3
Q

Malformation

A

Due to genetic epigenetic or environmental factor that alters development

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4
Q

Disruption

A

Development halted prematurely

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5
Q

Dysplasia

A

Structure underlying is not normal i.e. skeletal dysplaai

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6
Q

Teacher role

A

Primary instruction

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7
Q

Counseling role

A

Exploration n self awareness

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8
Q

Evaluation role

A

Critiquing n feedback

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9
Q

Consulting role

A

Collaborative with focus on students patients needs. Facilitates effective planning

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10
Q

positive predictive value

A

true + / total # of +

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11
Q

sensitivity

A

true positive / total # affected

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12
Q

specificity

A

true - / total not affected

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13
Q

pleiotropy

A

multiple phenotypic effects of a single allele

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14
Q

locus heterogenity example

A

condition caused by many differnt loci ie.RP

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15
Q

allelic heterogenity example

A

variable phenotypes in FGFR2 genein achondroplasia

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16
Q

genocopy

A

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

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17
Q

phenocopyu

A

environmental factor creating a phenotype much liek a partiular genotype

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18
Q

most common trisomy in SABs

A

T16

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19
Q

most common chromosme abnl in liveborn

A

+21

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20
Q

most common chromosome abnl in preg’s

A

45,X

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21
Q

pallister hall

A

polydactly cleft

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22
Q

countertransference

A

mistaking your feelings for the clients

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23
Q

internal organs formed when?

A

4-6wks

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24
Q

digits+facial features develop

A

8-12 wks

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25
Q

% of pregs endings in miscarriage

A

10-15%

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26
Q

% of miscarriage with chromosomal abnl

A

50-70%

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27
Q

MLH1 PMS2 missing, next step?

A

BRAF for hypermethylation

28
Q

Colon Cancer X criteria

A

Amsterdam met but no MSI or staining

29
Q

MYH associated cancers?

A

col, ov , baldder, skin

30
Q

PWS mechanism

A

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

31
Q

AngelmanMechanism

A

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

32
Q

Russel Silver mechanism

A

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

33
Q

Russel Silver location

A

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

34
Q

BWS mchanism part 1

A 
gainDMR1 methylation (both IGF2 on)5%
lossDMR2 methylation60%
35
Q

BWS mechanismpart 2

A

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

36
Q

markers earlier than expected

A

same as DS

37
Q

markers laster than expected

A

opposite of DS

38
Q

PaPPA in DS

A

lower in most 60%

39
Q

in FraX fully affected females POI is___

40
Q

unbal translocation riskis

A

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

41
Q

chondroplasia punctata inheritance

42
Q

hydantoin

A

Dysmorphicface, hypoplastic nail, growth and DD

43
Q

carried into innner self counter xferance

A

associative counter transferance

44
Q

assumtive counter transferance

A

projective counter transferance

45
Q

predictive testing

A

performed in symptomatic individual

46
Q

presymptomatic

A

performed in presymtpomatic indv

47
Q

IRB protections of deceased?

A

does not protect

48
Q

displacement

A

shifting target to safer 1

49
Q

CLCP type

A

80%isolated 20 syndromic

50
Q

CPC marker of

51
Q

NF2 location

52
Q

teratogens assoc w/

A

dose response

53
Q

HD repeat size max nl

54
Q

SLO Sx

A

hypospadias DD

55
Q

PHL Chr

56
Q

coefficent of kinship

A

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

57
Q

Russel Silver missing mat/pat?

A

Pat copy IC defect 50/or mat UPD10%

58
Q

BWS missing pat/mat

A

mat copy-IC defect/UPD of pat, cdkn1c

59
Q

campomelic look for what

A

XY sex reversal

60
Q

majority of ndj mat occur in m1/m2

61
Q

DMD testing

A

deldup then seq

62
Q

congential adrenal hyperplasia by

A

21 hydroxylase def

63
Q

DMD how many new mut

A

1/3 new mut

64
Q

simpson golabi behmel inheritnace

65
Q

aarskog inheritance

66
Q

RS what gene is off

Genetic Counseling (10 decks)

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