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Genetic Counseling Boards Prep 2023 > Genes and genetic mechanisms > Flashcards

Genes and genetic mechanisms Flashcards

1
Q

What are the causes (percentages) of RSS?

A

11p15.5 / chr 7 regions
missing paternal or paternal variant

35-50% imprinting defect of 11p15.5
10% maternal UPD 7

rare del/dup
rare sequence CDKN1C or IGF2

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2
Q

What is the most common cause of RSS?

A

imprinting defect of 11p15.5

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3
Q

What are the causes (percentages) of PWS?

A

15q11.2-13 region
missing paternal or paternal variant

70% deletion
25% mat UPD
<1% imprinting defect

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4
Q

What are the causes (percentages) of BWS?

A

11p15.5 region
missing maternal or maternal variant

55% imprinting defect
20% pat UPD
10% CDKN1C variant
10% del/dup

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5
Q

What are the causes (percentages) of Angelman syndrome?

A

15q11.2-q13 region
missing maternal or maternal variant

70% deletion
11% UBE3A variant
5% pat UPD
4% imprinting defect

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6
Q

What is the most common cause of PWS?

A

deletion of 15q11.2-13 region

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7
Q

What is the most common cause of BWS?

A

imprinting defect of 11p15.5 region

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8
Q

What is the most common cause of Angelman syndrome?

A

deletion of 15q11.2-13 region t

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9
Q

What are normal, intermediate, premutation, and full mutation sizes for FMR1 related disorders?

A

6-44 normal
45-54 intermediate
55-200 pre
>200 full

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10
Q

What type of repeat is seen in FMR1 related disorders?

A

CGG repeats
Can’t Go Golfiing

AGG repeats affect stability

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11
Q

What are normal, intermediate, reduced penetrance, and full mutation sizes for Huntington’s disease?

A

10-26 normal
27-35 intermediate
36-39 reduced penetrance
>40 full penetrance

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12
Q

What type of repeat is seen in Huntington’s disease?

A

CAG
Chorea And Grumpy

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13
Q

What are normal, premutation, and full mutation sizes for Fredreich’s ataxia?

A

5-33 normal
34-65 premutation
66-1300 full
usually 600-1200

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14
Q

What type of repeat is seen in Fredreich’s ataxia?

A

GAA

Gait AtaxiA

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15
Q

What are normal, premutation, intermediate, and full mutation sizes for Myotonic dystrophy type 2?

A

<30 normal if uninterrupted
11-26 normal if interrupted

30-54 premutation
55-74 intermediate
75-11000 full

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16
Q

What type of repeats in what gene cause Myotonic dystrophy type 2?

A

CCTG repeats in CNBP
Cx2- Can’t Touch Grip

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17
Q

What are normal, mild, classic, and congenital mutation sizes for Myotonic dystrophy type 1?

A

35-49 normal
50-150 mild
100-1000 classic
>1000 congenital

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18
Q

What type of repeats in what gene cause Myotonic dystrophy type 1?

A

CTG repeats in DMPK
Can’t Touch Grip

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19
Q

What type of repeats in what gene cause SCA type 1?

A

CAG repeats (same as HD) in ATXN1

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20
Q

What chromosome deletion causes Cri du Chat?

A

5p
80-90% terminal deletions

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21
Q

Is cri du chat usually paternal or maternal in origin?

A

80-90% paternal

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22
Q

What chromosome deletion causes Wolf hirschhorn?

A

4p

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23
Q

How often is 22q deletion syndrome inherited?

A

90% de novo 10% inherited

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24
Q

What deletion can cause Sotos syndrome? What population is more likely to be affected by Sotos caused by deletion vs a single gene cause?

A

5q35 deletion
Japanese

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25
Q

What gene is involved with the skin findings for William’s syndrome?

A

ELN, also causes AD cutis laxa

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26
Q

What gene is involved with tertology or fallot in 22q deletion syndrome?

A

TBX1

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27
Q

What gene causes acute intermittent porphyria?

A

HMBS

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28
Q

What condition is associated with HMBS?

A

acute intermittent porphyria

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29
Q

What is the penetrance of acute intermittent porphyria?

A

extremely low 0.5-1%

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30
Q

What is the cause of adrenal hypoplasia congenita?

A

NR0B1 - XL
or Xp21 deletion

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31
Q

What condition is associated with NR0B1?

A

adrenal hypoplasia congenita

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32
Q

What gene causes androgen insensitivity syndrome?

A

AR gene- XL

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33
Q

What condition is associated with the AR gene?

A

androgen insensitivity syndrome

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34
Q

What is the genetic cause of McCune Albright?

A

somatic mutation in GNAS

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35
Q

What can somatic mutations in GNAS cause?

A

Mccune albright

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36
Q

What is the common HFE variant of reduced penetrance?

A

p.Cys282Tyr

His63Asp also common

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37
Q

What is the penetrance for male homozygote HFE p.cys282tyr?

A

low 28% men
(1% women)

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38
Q

What is the penetrance for men with compound heterozygote HFE mutations: Cy282Tyr and His63Asp?

A

extremely low 0.5-2%

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39
Q

What is the carrier frequency for the two common HFE variants in European populations?

A

1/3 carrier of either Cys282Tyr
or His63Asp

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40
Q

What variant in the F5 gene causes Factor V Leiden?

A

c.1691G>A
(AR)

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41
Q

What gene causes Hemophilia A?

A

F8 (XL)

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42
Q

What are genetic causes of hemophilia A?

A

F8 gene - XL
43-51% sequence
48% inversions of exons 1 and 22

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43
Q

What gene causes Hemophilia B?

A

F9 (XL)

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44
Q

What are possible genotypes for someone with beta thal trait?

A

B/ B0
B/ B+

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45
Q

What are possible genotypes for someone with beta thal intermedia?

A

B+/ B+
B+ / B0
some residual activity, no full functioning B

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46
Q

What is the possible genotype for silent carrier of alpha thal?

A

xHBA1 / HBA1
+
HBA2/HBA2

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47
Q

What are possible genotypes for someone with alpha thal trait?

A

xHBA1 / HBA1
+
xHBA2 / HBA2

or

xHBA1 / xHBA1
HBA2 / HBA2

two mutations total!

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48
Q

What is a possible genotype for someone with HbH disease?

A

three mutations total

xHBA1 / xHBA1
+
xHBA2 / HBA2

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49
Q

What is the genotype for someone with Hb Barts disease?

A

mutations in all 4

xHBA1 / xHBA1
+
xHBA2 / xHBA2

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50
Q

What mutation cause Sickle cell anemia?

A

HBB p.glu6Val
p.6146

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51
Q

What gene causes alpha thal ID syndrome?

A

ATRX (XL)

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52
Q

What condition does the ATRX gene cause?

A

alpha thal ID syndrome

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53
Q

What gene causes MPS1?

A

IDUA (AR)
Hurler/Schaie

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54
Q

What condition is associated with the IDUA gene?

A

Hurler MPS1

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55
Q

What gene causes MPSII?

A

IDS (XL)
Hunter

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56
Q

What condition is associated with the IDS gene?

A

MPSII Hunter

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57
Q

What gene causes MPSIII?

A
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58
Q

What is the most common gene associated with Zellwegger spectrum?

A

PEX1

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59
Q

What condition is associated with the GALT gene?

A

Galactosemia (AR)

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60
Q

What gene causes Galactosemia?

A

GALT

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61
Q

What condition is associated with the GAA gene?

A

Pompe disease

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62
Q

What gene causes Pompe disease?

A

GAA (AR)

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63
Q

What condition is associated with the ACADM gene?

A

MCAD

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64
Q

What gene causes MCAD?

A

ACADM (AR)

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65
Q

What condition is associated with the ACADVL gene?

A

VLCAD

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66
Q

What gene causes VLCAD?

A

ACADVL (AR)

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67
Q

What gene causes PKU?

A

PAH (AR)

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68
Q

What condition is associated with the GLA gene?

A

Fabry disease

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69
Q

What gene causes Fabry disease?

A

GLA (XL)

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70
Q

What condition is associated with the GALC gene?

A

Krabbe

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71
Q

What gene causes Krabbe disease?

A

GALC (AR)

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72
Q

What condition is associated with the GBA gene?

A

Gaucher

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73
Q

What gene causes Gaucher disease?

A

GBA (AR)

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74
Q

What condition is associated with the GCDH gene?

A

Glutaric acidemia type 1

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75
Q

What condition is associated with the BTD gene?

A

biotinidase deficiency

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76
Q

What gene causes biotinidase deficiency?

A

BTD (AR)

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77
Q

What condition is associated with the FGD1 gene?

A

Aarskogg

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78
Q

What gene causes Aarskogg syndrome?

A

FGD1 (XL)

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79
Q

What condition is associated with the RPS6KA3 gene?

A

Coffin Lowry

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80
Q

What gene causes Coffin Lowry syndrome?

A

RPS6KA3 (XL)
2/3 de novo

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81
Q

What condition is associated with the NIPBL gene?

A

Cornelia de Lange

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82
Q

What gene is the most common cause of Cornelia de Lange ?

A

NIPBL (AD)
80% of genetic causes

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83
Q

What gene is the most common cause of Leigh syndrome?

A

MT-ATP6 (m)

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84
Q

What is the most common variant causing MELAS?

A

MT-TL1 m.3243A>G
80%

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85
Q

What condition is associated with the MT-TL1 m.3243A>G variant?

A

MELAS

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86
Q

What is the most common gene associated with MERRE?

A

MT-TK

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87
Q

What condition is associated with the EYA1 gene?

A

branchiootorenal syndrome

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88
Q

What is the most common gene associated with branchiootorenal syndrome?

A

EYA1 (AD) - 40%
also SIX1 and SIX 5

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89
Q

What deletion syndrome is associated with aniridia?

A

11p13 deletion including PAX6 and WT1

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90
Q

What condition is associated with 11p13 deletions?

A

WAGR syndrome - WT and aniridia

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91
Q

What condition is associated with 17p13.3 deletion?

A

Miller dieker lissencephaly

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92
Q

What is the genetic cause of Miller Dieker lissencephaly?

A

17p13.3 deletion syndrome including PAFAH1B1- lissencephaly/subcortical band heteropia
YWHAE

93
Q

What is the genetic cause of lissencephaly in Miller Dieker syndrome?

A

PAFAH1B1 gene (formally LIS1)

94
Q

What condition is associated with 22q13.3 deletion?

A

Phelan Mcdermid, including SHANK3

95
Q

What is the genetic cause of Phelan Mcdermid syndrome?

A

22q13.3 deletion syndrome
or mutations in SHANK3

96
Q

What condition are indviduaals with Phelan Mcdermid caused by a ring chromosome also at risk for?

A

NF2 due to ring chromosome 22

97
Q

What condition is associated with the CREBBP gene?

A

Rubinstein Taybi

98
Q

What is the genetic cause of Rubinstein Taybi syndrome?

A

CREBBP (50-60%) - 20% del/dup
EP300 (10-20%)
unknown in 30%
(AD)

99
Q

What condition is associated with the RAI1 gene?

A

Smith magenis

100
Q

What is the genetic cause of Smith Magenis syndrome?

A

RAI1 or 17p11.2 deletion
-sequence 5-10%
-del 90-95%

101
Q

What condition is associated with a 17p11.2 deletion?

A

Smith Magenis syndrome
can also include FLCN —> BHD

102
Q

What condition is associated with the OFD1 gene?

A

oro facial digital type 1

103
Q

What is the genetic cause of oro facial digital type 1 syndrome?

A

OFD1 (XLD, male lethal)
Xp22.2

104
Q

What is the de novo rate for achondroplasia?

A

80% de novo FGFR3

105
Q

What condition is associated with the RUNX2 gene?

A

cleidocranial dysplasia

106
Q

What is the genetic cause of cleidocranial dysplasia?

A

RUNX2 (AD)
sequence 70-80%, del 15%

107
Q

What conditions are associated with the FGFR2 gene?

A

Apert
Beare Stevenson
Bent bone
Crouzon
Jackson Weiss
Pfeiffer >95%

108
Q

What conditions are associated with the FGFR1 gene?

A

Pfieffer <5%
Jackson Weiss ??

109
Q

What conditions are associated with the FGFR3 gene?

A

Achondroplasia
Hypochondroplasia
Crouzon with AN
Muenke

110
Q

What is the genetic cause of Apert syndrome?

A

FGFR2

111
Q

What is the genetic cause of Beare Stevenson syndrome?

A

FGFR2

112
Q

What is the genetic cause of Bent bone dysplasia syndrome?

A

FGFR2

113
Q

What is the genetic cause of Crouzon syndrome?

A

FGFR2

114
Q

What is the genetic cause of Crouzon syndrome with acanthosis nigricians?

A

FGFR3

115
Q

What is the genetic cause of Jackson Weiss syndrome?

A

FGFR2 (maybe FGFR1?)

116
Q

What is the genetic cause of Muenke syndrome?

A

FGFR3

117
Q

What is the genetic cause of Pfeiffer syndrome?

A

FGFR2 95%
FGFR1 5%

118
Q

What is the genetic cause of Osteogenesis imperfecta?

A

COL1A1
COL1A2

119
Q

What condition is associated with the COL1A1 gene?

A

OI

120
Q

What condition is associated with the COL1A2 gene?

A

OI

121
Q

What percent of TSC is due to TSC1 or TSC2 genetic causes?

A

26% TSC1
69% TSC2 - more severe, higher de novo
5% unknown

122
Q

What is an XL cause of hypohidrotic ectodermal dysplasia?

A

EDA (XL)

123
Q

What are the genetic causes of oculocutaneous albinism 1, 2, and 3?

A

TYR–> OCA1
OCA2 –> OCA2
TYRP –> OCA3

124
Q

What genetic cause of OCA2 is most common in African populations?

A

OCA2 deletion of exon 7

125
Q

What is the most common type of pathogenic variant in NF1?

A

severe truncating

126
Q

What is the molecular activity of the neurofibromin protein?

A

neurofibromin activate RAS GTPase
- is a tumor suppressor and controls cell proliferation

127
Q

What is distinctive of 25-50% of NF2 de novo variants?

A

25-50% are mosaic - may need to test other tissues

128
Q

What types of NF2 variants lead to mild vs severe disease?

A

Mild: large deletions, no ID associated
Severe: nonsense and frameshift

129
Q

What genes are associated with schwannomatosis?

A

LZTR1 50%
SMARCB1 60%

130
Q

What is the genetic cause of incontinentia pigmenti syndrome?

A

IKBKG (XL, males often miscarry)

131
Q

What are the most common normal and pathogenic variants in SERPINA1?

A

Alpha 1 antitrypsin
*M most common normal
*Z most common pathogenic

132
Q

What is the likely genotype for a male with isolated congenital absence of the vas deferens and two CFTR variants?

A

1 severe LOF CFTR
+
1 non CF causing variants

OR
2 non CF causing variants

133
Q

What is the location of the CFTR gene?

A

7q31.2

134
Q

What type of CFTR variants may not be picked up on WES?

A

deep intronic variants

135
Q

What is the most common CFTR variant in Northern European populations?

A

Phe500del
-founder variants for AJ and Amish

136
Q

What lengths of the poly T tract for CFTR are benign or penetrant?

A

7 and 9 T- benign
5T variably penetrant
-decreases efficiency or intron 8 splicing
–> 50% of full length CFTR produced

137
Q

What lengths of the poly TG tract for CFTR further decrease the amount of full protein produced?

A

modulate for individuals with 5 T allele
longer TG (12 or 13) + short T (5T)
–> reduction of full length CFTR to 25%

138
Q

What is the genetic cause of BPES syndrome?

A

FOXL2 (AD)

139
Q

What condition is associated with the FOXL2 gene?

A

BPES

140
Q

What gene associated with Leber congenital amaurosis has a gene therapy?

A

RPE65

141
Q

What type of GJB2 variants are associated with mild vs profound hearing loss?

A

truncating/ truncating: most likely profound

non truncating/ non truncating: most likely mild

142
Q

In addition to AR hearing loss, what other conditions are associated with GJB2?

A

palmoplantar keratosis with deafness keratitis icthyosis

143
Q

What is the GJB2 carrier rare in European populations?

A

2-4%
7.5% AJ c.167del%

144
Q

What are the most common genetic causes of Hermansky Pudlak in Puerto rican popylations?

A

80% HPS1 duplication
20% HPS3 deletion

145
Q

What are possible genetic causes of Pendred syndrome?

A

biallelic SCL26A4
OR
one SLC26A4
+
one FOXI1 or KCNJ10

146
Q

What are the three most common mutations associated with Leber hereditary optic neuropathy ?

A

MT-ND1 m.3460G>A
MT-ND4 m.11778G>A (60-70% european affected)
MT-ND6 m.14484T>C (french canadian variant)

147
Q

What mutation associated with Leber hereditary optic neuropathy has the best long term visual outcome?

A

MT-ND4 m.11778G>A

148
Q

What is the penetrance of Leber hereditary optic neuropathy in males and females?

A

males 50%
females 10%

149
Q

What is the genetic cause of Waardenburg syndrome type 1?

A

PAX3 (AD)
also caused WS3

150
Q

What condition is associated with the PAX3 gene?

A

Waardenburg syndrome type 1 and 3

151
Q

What is the genetic cause of Alagille syndrome?

A

JAG1 90-94%
NOTCH2 2%

50-70% de novo

152
Q

What is the genetic cause of Brugada syndrome?

A

SCN5A LOF 30%
unknown 65%

rarely KCEN5- XL

153
Q

What condition is associated with SCN5A mutations?

A

LOF- Brugada
GOF- LQT type 3

154
Q

What is the genetic cause of HHT ?

A

ACVRL1 52%
ENG 44%
SMAD 1%
unknown 3%

155
Q

What condition is associated with ACVRL1?

A

HHT

156
Q

What is the genetic cause of Holt Oram syndrome?

A

TBX5 (AD)
85% de novo

157
Q

What condition is associated with the TBX5 gene?

A

Holt oram

158
Q

What are the genetic causes of Usher syndrome type 1?

A

MYO7A 53-70%
CDH23 10-20%
other USH genes
unknown 10-15%

159
Q

What are the genetic causes of Usher syndrome type 2?

A

USH2A 55-80%
ADGRV1 6-20%

160
Q

What condition is associated with the MYO7A gene?

A

Usher syndrome type 1

161
Q

What is the genetic cause of Stickler syndrome?

A

COL2A1 80-90%
usually a premature stop codon
COL11A1 10-20%

AD or AR

162
Q

Which genetic cause of Stickler syndrome is associated with more severe hearing loss?

A

COL11A1 mutations > COL2A1

163
Q

What is the genetic cause of Simpson Golabi Behmel syndrome?

A

GPC3 - 55% sequence, 43% del
(XL)

164
Q

What is the genetic cause of Costello syndrome?

A

HRAS

165
Q

What condition is associated with germline mutations in HRAS?

A

Costello

166
Q

What is the genetic cause of Noonan syndrome?

A

PTPN11 50% (AD)
SOS1 10-13% (AD)
LZTR1 8% (AR)

167
Q

What additional exam should be considered in individuals with PTPN11 or KRAS associated Noonan syndrome?

A

physical exam to assess for spleen size and CBC every 3- 6 months until age 5 to risk for JMML/ malignancy

168
Q

What is the genetic cause of Noonan syndrome with multiple lentigines?

A

PTPN11 95%
RAF1 <3%

169
Q

What is the genetic cause of Cardiofaciocutaneous syndrome?

A

BRAF 75%
25% MAP2K1 and MAP2K2

170
Q

What conditions are associated with germline mutations in BRAF? which is most common?

A

Noonan, NSML, CFC

171
Q

What is the genetic cause of LQTS types 1, 2, 3?

A

Type 1: KCNQ1- LOF
Type 2: KCNH2 - LOF
Type 3: SCN5A -GOF

172
Q

What condition is associated with mutations in KCNQ1?

A

LQTS1
AR Jervell Lange Nielson (also KCNE1)

173
Q

What condition is associated with mutations in KCNH2?

A

LQTS2

174
Q

What are the most common genes associated with non-syndromic HCM?

A

MYPBC3 50%
MYH7 33%

175
Q

What are the most common known genes associated with non-syndromic DCM?

A

TTN 15-20%
LMNA 6%

176
Q

What is the most common genetic cause of CMT?

A

PMP22 duplication at 17p11.2
type 1a, up to 50% of all CMT

177
Q

What condition is associated with a 17p11.2 duplication?

A

CMT

178
Q

What proportion of DMD is caused by a pathogenic deletion?

A

65-80%
sequence variants 20-35%

179
Q

What are the most common genes associated with nemaline myopathies?

A

ACTA1 and NEB

180
Q

What percent of the population has two copies of the SMN1 gene on one chromosome?

A

5-8%
-especially saharan African population

181
Q

What condition is associated with the FH gene?

A

hereditary leiomyomastosis and renal cell carcinoma syndrome (AD)

fumarate deficiency (AR)

182
Q

What is the genetic cause of HLRCC?

A

FH (AD)
-biallelic causes fumarate hydratase deficiency

183
Q

What is the genetic cause of nevoid basal cell carcinoma syndrome?

A

PTCH1 (most)
SUFU 6%

184
Q

What genetic cause of nevoid basal cell carcinoma syndrome is associated with an increased risk for medulloblastoma?

A

SUFU- 33% vs 5%

185
Q

What are the de novo rates for MEN2A and MEN2B?

A

MEN2A <5%
MEN2B 50%

186
Q

What is the most common genetic cause of MEN2B?

A

RET p.Met918Thr

187
Q

What region of the APC gene is more likely to have mutations associated with attenuated FAP?

A

5’ end
also 3’ end

188
Q

What is the result of biallelic variants in VHL?

A

biallelic variants
–> retention of cryptic exon 11
–> familial erythrocytosis 2 (no VHL type tumors)

189
Q

What is the Brazilian founder mutation in TP53?

A

p.Arg337His

190
Q

What is the genetic cause of XL Fanconi anemia?

A

FANCB

191
Q

What is the genetic cause of CADASIL?

A

NOTCH3 (AD)
de novo rare

192
Q

What are the most common genetic causes of early onset familial Alzheimer’s disease?

A

PSEN1 20-70%
APP 10-15%
PSEN2 5% -reduced penetrance
unknown 20-40%

193
Q

What is the genetic cause of FSHD?

A

pathogenic contraction at D4Z4 subtelomeric region at 4q35 on a permissive haplotype

194
Q

Hypermethylation in what genes causes 5% of FSHD (type 2)?

A

SMCHD1
DNMT3B
10-30% de novo

195
Q

What is a normal allele size in the D4Z4 region causing FSHD?

A

normal >=12
or any number or a non-permissive haplotype

<=9 full penetrance for FSHD

196
Q

What is the genetic cause of Wilson disease?

A

ATP7B (AR)

197
Q

What condition is associated with the ATP7B gene?

A

Wilson disease

198
Q

What is the genetic cause of Menkes disease?

A

ATP7A (XL)

199
Q

What condition is associated with the ATP7A gene?

A

Menkes disease

200
Q

What is the genetic cause of Alport syndrome?

A

COL4A5 (XL) 80-85%
COL4A3 (AD or AR) 12-15%
COL4A4 (AD or AR) 5-8%

201
Q

What genetic cause of Alport syndrome is associated with increased risk for diffuse leiomyomatosis?

A

large deletion at end of COL4A5 adjacent to COL4A6

202
Q

What is the genetic cause of XL SCID?

A

IL2RG

203
Q

What is the most common variant causing achondroplasia?

A

FGFR3 p.Gly380Arg

204
Q

What condition is caused by somatic variants in ATK1?

A

Proteus syndrome

205
Q

What somatic variant causes Proteus syndrome?

A

ATK1

206
Q

What is the KIT gene associated with?

A

piebladism

207
Q

On what chromosome is the VHL gene located?

A

3p25

208
Q

On what chromosome is the HTT gene located?

A

4p

209
Q

On what chromosome is the FGFR3 located?

A

4p16

210
Q

On what chromosome is the APC gene located?

A

5q22

211
Q

On what chromosome is the CF gene located?

A

7q31

212
Q

On what chromosome is the FXN gene located?

A

9q21

213
Q

On what chromosome is the FGFR2 gene located?

A

10q

214
Q

On what chromosome is the PTEN gene located?

A

10q23

215
Q

On what chromosome is the HBB gene located?

A

11p15

216
Q

On what chromosome is the PTPN11 gene located?

A

12q24

217
Q

On what chromosome is the PAH gene located?

A

12q

218
Q

On what chromosome is the GJB2 gene located?

A

13q

219
Q

On what chromosome is the BRCA2 gene located?

A

13q13

220
Q

On what chromosome is the RB1 gene located?

A

13q14

221
Q

On what chromosome is the FBN1 gene located?

A

15q21

222
Q

On what chromosome are the HBA1 and HBA2 genes located?

A

16p13

223
Q

On what chromosome is the TSC2 gene located?

A

16p13

224
Q

On what chromosome is the FLCN gene located?

A

17p11

225
Q

On what chromosome is the NF1 gene located?

A

17q11

226
Q

On what chromosome is the TP53 gene located?

A

17q13

227
Q

On what chromosome is the BRCA1 gene located?

A

17q21

228
Q

On what chromosome is the DMPK gene located?

A

19q13

229
Q

On what chromosome is the NF2 gene located?

A

22q12

Genetic Counseling Boards Prep 2023 (13 decks)

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