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x_NeuroGenetics Review > ~80 Genetic Disorders > Flashcards

~80 Genetic Disorders Flashcards

1
Q

Inheritance 1p36.3

A

Sporadic

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2
Q

3 major clinical features 1p36.3

A

Neurodev disabilities, characteristic face (straight eyebrows, deep-set eyes), hypotonia

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3
Q

Inheritance Achondroplasia

A

AD

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4
Q

Gene Achondroplasia

A

FGFR3

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5
Q

3 major clinical features Achondroplasia

A

Rhizomelic limb shortening, macrocephaly, trident hands

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6
Q

Characteristic Face Achondroplasia

A

Frontal bossing, Midface hypoplasia

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7
Q

Inheritance Alagille

A

AD

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8
Q

5 ‘organ’ systems affected in Alagille

A

Liver, Heart, Eyes, Skeleton, Face

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9
Q

4 major clinical features Alagille

A

Bile duct paucity, pulmonic stenosis, posterior embryotoxon, butterfly-shaped vertebrae

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10
Q

Inheritance ALS

A

Most sporadic (or AD, AR, XL)

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11
Q

3 major clinical features of ALS

A

Asymmetric limb weakness, bulbar symptoms, muscle atrophy

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12
Q

Inheritance Angelman Syndrome

A

Imprinted (loss of maternal copy)

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13
Q

Etiologies for Angelman Syndrom

A

Del mat, pat UPD, loss UBE3A gene

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14
Q

3 major features of Angelman Syndrome

A

Severe ID with speech problems, ataxia gait, happy/excitable/laughter

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15
Q

Inheritance for Ataxia Telangiectasia

A

AR

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16
Q

Hallmark in blood of Ataxia Telangiectasia

A

Elevated AFP

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17
Q

3 major clinical features of A-T

A

Ataxia (before 5), telangiectasis in eyes and skin, increased risk of leukaemia and lymphoma

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18
Q

Inheritance of Ataxia w/ Oculomotor Apraxia

A

AR

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19
Q

3 major clinical features of Ataxia with Oculomotor Apraxia

A

Ataxia, Oculomotor Apraxia, Neuropathy, Chorea

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20
Q

Inheritance of Bardet-Biedl Syndrome

A

AR

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21
Q

3 major features of Bardet-Biedl Syndrom

A

Vision problems, obesity, ID, genital anomalies and anosmia

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22
Q

Inheritance of BMD

A

xlr

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23
Q

3 major clinical features of BMD

A

Muscle weakness, cardiomyopathy, may live into 40s

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24
Q

Inheritance of BWS

A

AD (imprinting)

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25
Q

Etiologies for BWS

A

Imprinting of chromosome 11, paternal UPD of chromosome 11, mutations in CDKN1C

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26
Q

5 clinical features of BWS

A

Macrosomia, Macroglossia, visceromegaly, hemihyperplasia, abdominal wall defect

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27
Q

Increased risk for what kind of cancer in BWS

A

Wilm’s Tumor and hepatoblastoma

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28
Q

Inheritance of BOR Syndrome

A

AD

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29
Q

3 major features of BOR Syndrome

A

Branchial arch anomalies, ear anomalies with HL, kidney anomalies

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30
Q

Inheritance of CADASIL

A

AD

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31
Q

3 major features of CADASIL

A

Migraine with aura, ischemic strokes and TIA, mood/cognitive problems

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32
Q

Inheritance of Canavan Disease

A

AR

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33
Q

Canavan can be characterized as?

A

Leukodystrophy

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34
Q

3 major features Canavan

A

No motor skills, feed/swallowing problems, seizures, sleep problems

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35
Q

Inheritance Cardio-Facial-Cutaneous Syndrome

A

AD

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36
Q

3 major features of Cardio-Facial-Cutaneous Syndrome

A

Heart- Pulmonic stenosis, characteristic face, Skin- wirnkled palms/soles

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37
Q

Inheritance of CMT

A

AD, AR, XL, Mt

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38
Q

3 major features of CMT1A

A

Toe walking, clumsy, foot deformities

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39
Q

Severity of CMT2A compared to CMT1A

A

CMT2A is more severe- earlier onset and require wheelchair

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40
Q

Inheritance of CHARGE syndrome

A

AD

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41
Q

CHARGE stands for what features?

A

Coloboma, Heart defect, Atresia Choanal, Retarded growth, Genital abnormalities, Ear abnormalities

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42
Q

Inheritance Cleidocranial Dysplasia

A

AD

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43
Q

3 major features of Cleidocranial dysplasia

A

Bone- absent clavicles, unusually shaped teeth, dysmorphic face

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44
Q

Inheritance Cockayne Syndrome

A

AR

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45
Q

3 major features of Cockayne Syndrome

A

Microcephaly, photosensitivity, FTT

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46
Q

People with Cockyne Syndrome have life threatening allergy to?

A

Metronidazole (antibiotic)

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47
Q

Inheritance Coffin-Lowry Syndrome

A

XLD

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48
Q

What sex is Coffin-Lowry syndrome more severe in?

A

Males

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49
Q

3 major features of Coffin-Lowry syndrome?

A

Profound ID, characteristic face, stimulus-induced drop episodes

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50
Q

Inheritance Cornelia de Lange Syndrome

A

AD

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51
Q

3 major features of Cornelia de Lange Syndrome

A

Short stature, abnormalities of bones in arms, ID/behavior problems, characteristic face

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52
Q

Inheritance of Costello Syndrome

A

AD (mostly de novo)

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53
Q

3 major features of Costello Syndrome

A

Development problems (FTT, DD), Heart problems (HCM), Characteristic face (curly/sparse hair)

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54
Q

People with Costello syndrome have risk for what kind of tumor

A

Rhabdomyosarcoma or neuroblastoma

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55
Q

Inheritance of Cri du Chat

A

Sporadic (usually)

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56
Q

Deletion in Cri du Chat is where?

A

5p

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57
Q

3 major features of Cri du Chat

A

High-pitched/cat-like cry, microcephaly, low birth weight

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58
Q

Inheritance of 22q11

A

Usually de novo

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59
Q

Where is deletion in 22q11?

A

22q11

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60
Q

3 major features of 22q11

A

Velopharyngeal incompetence, CHD, immune deficiency, increased risk for psych problems

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61
Q

Inheritance of DMD

A

XLR

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62
Q

3 major features of DMD

A

Muscle weakness and wasting– wheelchair by adolescence, cardiomyopathy, live into 20s

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63
Q

Inheritance of early-onset Alzheimer’s Disease

A

AD

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64
Q

3 major features of early-onset AD

A

Forgetfulness that interferes with daily life, needing help with personal care, may be personality/behaviour changes

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65
Q

Inheritance of Classic EDS

A

AD

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66
Q

3 major features of Classic EDS

A

Skin hyper extensibility, widened atrophic scars, joint hypermobility

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67
Q

Inheritance of hypermobile EDS

A

AD

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68
Q

3 major features of hypermobile EDS

A

Joint hyper mobility (complain of chronic pain), soft skin, absence of fragility

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69
Q

Inheritance of Vascular EDS

A

AD

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70
Q

3 major features of Vascular EDS

A

Arterial aneurysms, intestinal rupture, uterine rupture during pregnancy

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71
Q

Inheritance of Factor V Leiden Deficiency

A

Number of mutations influences risk

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72
Q

Inheritance of Familial Dysautonomia

A

AR

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73
Q

Unique features in Familial dysautonomia

A

Infancy- lack of tears, difficulty maintaining body temp; Kids- hold breath for long time; School age- bed wetting, reduced sensitivity to temperature changes/pain, BP regulation problems; Adult- walking problems, impaired kidney function

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74
Q

Inheritance of Crouzon Syndrome

A

AD

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75
Q

Inheritance of Apert Syndrome

A

AD

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76
Q

Inheritance of Pfeiffer Syndrome

A

AD

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77
Q

Inheritance of Muenke Syndrome

A

AD

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78
Q

3 major clinical features of Crouzon syndrome

A

Vrachycephaly, cervical spine anomalies, mild shortening of humerus/femora

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79
Q

2 major clinical features of Apert Syndrome

A

Brachycephaly, Mitten-type syndactyly of hands and feet

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80
Q

1 major clinical feature of Pfeiffer syndrome

A

Broad/angulated thumbs and great toes (also type 2- cloverleaf skull)

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81
Q

3 major features of Meunke Syndrome

A

Coronal synostosis, anomalies of hands and feet, hearing loss

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82
Q

Inheritance of Fragile X syndrome

A

XLR

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83
Q

Anticipation in Fragile X syndrome when passed through what parent?

A

Mom

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84
Q

3 major features of Fragile X

A

DD/ID, behaviour problems, dysmorphic face

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85
Q

Risks to Fragile X permutation carriers

A

FXTAS, POI

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86
Q

Premutation repeat number in Fragile X

A

55-200

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87
Q

Full mutation repeat number in Fragile X

A

200+

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88
Q

What trinucleotide repeat is expanded in Fragile X?

A

CGG

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89
Q

Inheritance of Friedreich’s Ataxia

A

AR

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90
Q

3 major features of Friedreich’s Ataxia

A

Ataxia, HCM, DM, scoliosis

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91
Q

What trinucleotide repeat is expanded in Friedreich’s ataxia

A

GAA

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92
Q

Premutation repeat number in Friedreich’s Ataxia

A

34-65

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93
Q

Full mutation repeat number in Friedreich’s Ataxia

A

66-1300

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94
Q

Inheritance of Hereditary Hemorrhagic Telangiectasia

A

AD

95
Q

3 major features of HHT

A

Arteriovenous malformations, mucocutaneous telangiectasis, frequent nosebleeds

96
Q

Inheritance of Hereditary Neuropathy with Liability to Pressure Palsies

A

AD

97
Q

3 major features of HNLPP

A

Recurrent episodes of numbers, pain in limbs, carpal tunnel syndrome

98
Q

Inheritance of HD

A

AD

99
Q

Anticipation occurs in HD when passed through which parent?

A

Dad

100
Q

3 major features of HD

A

Psych, Motor- chorea, Cognitive

101
Q

Premutation repeat number in HD

A

27-35

102
Q

Full mutation repeat number in HD

A

40+

103
Q

What trinucleotide repeat is expanded in HD

A

CAG

104
Q

Inheritance Incontinentia Pigmenti

A

XLD (lethal in males)

105
Q

4 stages of skin problems in Incontinentia Pigmenti

A

Vesicular– verrucous– pigmentary– atrophic

106
Q

Inheritance of Joubert Syndrome

A

AR (rarely XL)

107
Q

3 major features of Joubert Syndrome

A

Molar tooth sign on MRI, episodes of usually fast/slow breathing, ataxia

108
Q

Inheritance of Kabuki Syndrome

A

AD, XL

109
Q

3 major features of Kabuki syndrome

A

DD, problems with hip/knee joints, Cleft palate, prominent finger pads

110
Q

Inheritance of Kallman Syndrome

A

XL

111
Q

3 major features of Kallman syndrome

A

Delayed/absent puberty, hypogonadotropic hypogonadism, anosmia

112
Q

Karyotype of Klinefelter Syndrome

A

47, XXY

113
Q

3 major features of Klinefelter Syndrome

A

Small testes, taller than peers, LD, behaviour problems

114
Q

Inheritance of Krabbe Disease

A

AR

115
Q

Enzyme deficiency in Krabbe disease

A

B-galactocerebrosidase

116
Q

3 stages of features in infantile Krabbe

A

1: irritability/spasticity/FTT/dev arrest; 2: neurogeneration/seizures; 3: blind/deaf/unaware

117
Q

Inheritance of Leber Hereditary Optic Neuropathy

A

mitochondrial

118
Q

Major feature of LHON

A

Blurred/cloudy vision

119
Q

Inheritance of LEOPARD Syndrome

A

AD

120
Q

What does each letter stand for in LEOPARD Syndrome

A

Lentigines, Electrocardiographic conduction defects, Ocular hyperelorism, Pulmonary Stenosis, Abnormalities of Genitalia, Retarded growth, Deafness

121
Q

Inheritance of Limb-Girdle Muscular Dystrophy

A

AR

122
Q

3 major features of Limb Girdle Muscular Dystrophy

A

Weak thigh muscles, hypertrophy of calf muscles, cardiomyopathy in some

123
Q

Loeys Dietz Inheritance

A

AD

124
Q

3 major features of Loeys Dietz

A

Enlargement of aorta, arterial tortuosity, skeletal abnormalities, skin differences

125
Q

Annual colonoscopy in Lynch syndrome to start at what age?

A

20-25 yo

126
Q

Inheritance of Marfan Syndrome

A

AD

127
Q

3 major features of Marfan Syndrome

A

Tall w/ arachnodactyly, ectopic lentil, aortic aneurysm

128
Q

Inheritance of McCune Albright Syndrome

A

Not inherited-mosaicism

129
Q

3 major features of McCune Albright Syndrome

A

Bone- polyostotic fibrous dysplasia, Skin- CALs with irregular borders, Endocrine- early puberty, thyroid goiter, acromegaly

130
Q

Inheritance of Myotonic Dystrophy

A

AD

131
Q

What trinucleotide repeat is expanded in Myotonic dystrophy

A

CTG

132
Q

Premutation repeat number in Myotonic Dystrophy

A

35-49

133
Q

Full mutation repeat number in myotonic dystrophy

A

>50

134
Q

3 major clinical features of myotonic dystrophy

A

Progressive muscle weakness/wasting, cataracts, cardiac conduction defects

135
Q

Inheritance of Nemalin Myopathy

A

AR (less often AD)

136
Q

3 major features of Nemalin Myopathy

A

Myopathy of proximal muscles, feeding/swallowing problems, joint contractures

137
Q

Inheritance of NF1

A

AD

138
Q

6 major features of NF1

A

CALs, neurofibromas, inguinal/axillary freckling, optic glioma, Lisch nodules, distinct osseous lesion

139
Q

Inheritance of NF2

A

AD

140
Q

NF2 has growth of non-cancerous tutors, especially:

A

Vestibular schwannomas or acoustic neuromas

141
Q

Inheritance of Noonan Syndrome

A

AD

142
Q

5 major features of Noonan Syndrome

A

Short stature, heart defect- pulmonic stenosis, bleeding problems, skeletal malformations, males with delayed puberty

143
Q

People with Noonan syndrome are at increased risk for what type of cancer

A

Leukemia

144
Q

Inheritance of Parkinson’s disease

A

Sporadic (or AD or AR)

145
Q

3 major features of Parkinson’s disease

A

Tremor, rigidity, braykinesia (can have psych conditions)

146
Q

What gene is a risk factor for (but is not independently responsible for) Parkinson’s disease

A

LRRK2

147
Q

Inheritance of Prayer Willi Syndrome

A

Sporadic

148
Q

Where is deletion in Prader Willi Syndrome?

A

15p11-13

149
Q

Etiologies for Prader Willi Syndrome?

A

Del of paternal 15p or maternal UPD of chromosome 15

150
Q

3 major features of PWS

A

Intantile hypotonia and FTT, hyperphagia and obesity, hypogonadism

151
Q

Inheritance of Cowden Syndrome

A

AD

152
Q

Gene for Cowden Syndrome

A

PTEN

153
Q

Increased risk for what cancers in Cowden syndrome?

A

Breast, endometrial, thyroid

154
Q

Skin triad seen in Cowden syndrome

A

Facial trichillemommas, aural keratosis, papillomatous papules

155
Q

Inheritance of Rett Syndrome

A

XLD (lethal in males)

156
Q

3 major features of Rett syndrome

A

Developmental regression, hand wringing/clapping, seizures

157
Q

Inheritance of Rubinstein-Taybi Syndrome

A

AD (most de novo)

158
Q

3 major features of Rubinstein-Taybi Syndrome

A

ID, broad thumbs/first toes, eye/heart/kidney defects

159
Q

People with Rubinstein-Taybi syndrome are at increased risk for what type of cancer?

A

Brain tumors, leukemia

160
Q

Inheritance of Smith Magenis Syndrome

A

Sporadic

161
Q

Where is deletion in Smith Magenis Syndrome

A

17p11.2

162
Q

3 major features of Smith Magenis syndrome

A

DD/ID, Behaviour- self injury and lick/flip, sleep disturbances

163
Q

Inheritance of Sotos Syndrome

A

AD (most de novo)

164
Q

3 major features of Sotos Syndrome

A

Overgrowth in childhood, DD and behaviour problems, characteristic face

165
Q

Inheritance of SMA

A

AR

166
Q

3 major features of SMA

A

DD, unable to support head/sit unassisted, breathing and swallowing problems

167
Q

What can modify the SMA phenotype?

A

Number of functional SMN2 copies

168
Q

Inheritance of Syndromic Congenital Muscular Dystrophy

A

AR (sometimes AD)

169
Q

3 major features of Syndromic Congenital Muscular Dystrophy

A

Muscle weakness at birth, delayed motor development with joint rigidity–> joint contractors, spinal deformities, respiratory compromise

170
Q

Inheritance of Tay Sachs Disease

A

AR

171
Q

3 major features of Tay Sachs Disease

A

Loss motor skills, seizures/regression, die in early childhood

172
Q

Gold standard for diagnosis of Tay Sachs

A

HEXA enzyme analysis

173
Q

Inheritance of Triploidy

A

Sporadic

174
Q

Karyotype for triploidy

A

69, XXX

175
Q

Triploidy usually a result of extra paternal or maternal chromosomes?

A

Paternal

176
Q

Signs in pregnant woman of triploidy fetus with extra paternal set

A

Cystic placenta, partial mole, IUGR, syndactyly

177
Q

Signs in pregnant woman of triploidy fetus with extra maternal set

A

Small placenta, IUGR

178
Q

Inheritance of T13

A

Usually sporadic

179
Q

Karyotype for T13

A

47, XX, +13

180
Q

3 major features of T13`

A

Midline defects: HPE, polydactyly, CL+P

181
Q

Inheritance of T18

A

Usually sporadic

182
Q

Karyotype of T18

A

47, XX, +18

183
Q

3 major features of T18

A

Hypertonia, clenched fist with overlapping fingers, rocker bottom feet

184
Q

Sign in pregnancy of T18 fetus

A

Polyhydramnios

185
Q

Inheritance of T21

A

Usually sporadic (4% Rob)

186
Q

Karyotype of T21

A

47, XX, +21

187
Q

3 major features of T21

A

Hypotonia, CHD, characteristic face

188
Q

Inheritance of Tuberous Sclerosis

A

AD

189
Q

Organ systems affected in Tuberous Sclerosis

A

Skin, Kidney, Lung, Heart, Brain

190
Q

4 skin findings in Tuberous Sclerosis

A

Ash leaf spots, shagreen patches, facial angiofibromas, inguinal fibromas

191
Q

What is in brain of Tuberous Sclerosis patient and how does it affect phenotype

A

Cortical Tubers; the higher the number the higher the cognitive impairment

192
Q

Inheritance of Turner Syndrome

A

Sporadic

193
Q

Karyotype for Turner Syndrome

A

45, X

194
Q

3 major features of Turner Syndrome

A

Short stature, gonadal dysgenesis, CHD in half

195
Q

What treatment should be given to girls with Turner Syndrome

A

Estrogen replacement therapy

196
Q

What treatment should be given to boys with Klinefelter syndrome

A

Testosterone supplementation

197
Q

Inheritance of VACTERL Syndrome

A

Sporadic (sometimes multifactorial)

198
Q

What does each letter in VACTERL stand for?

A

Certebral facts, Anal atresia, Cardiac facts, Tracheo-Esophageal fistula, Renal anomalies, Limb anomalies

199
Q

Inheritance of VHL

A

AD

200
Q

Gene in VHL

A

VHL

201
Q

What is the lifetime risk of renal cancer in VHL?

A

40%

202
Q

What cancers are at an increased risk in VHL?

A

Renal, hemangioblastoma, pheochromocytoma

203
Q

Ophthalmology exams start at what age for screening for VHL?

A

5 yo

204
Q

CNS imaging by MRI is annual in screening for VHL, starting at what age?

A

11 yo

205
Q

Inheritance of Waardenburg Syndrome

A

AD

206
Q

3 major features of Waardenburg syndrome

A

SNHL, partial albinism/white forelock, blue eyes (or Dif color)

207
Q

Inheritance of William’s Syndrome

A

Usually sporadic

208
Q

Where is deletion in William’s Syndrome

A

7q11.23

209
Q

3 major features of William’s Syndrome

A

Outgoing personality, Elfin face, Supravalvular aortic stenosis

210
Q

Inheritance of Wilson’s disease

A

AR

211
Q

What substance accumulates in tissues in Wilson’s disease

A

Copper

212
Q

3 major features of Wilson’s disease

A

Liver disease with jaundice, movement disorders, Kayser-Fleischer rings, psych symptoms

213
Q

Inheritance of Wolf-Hirschhorn Syndrome

A

Sporadic

214
Q

Where is deletion in Wolf-Hirschhorn syndrome?

A

4p16.3

215
Q

3 major features of Wolf Hirschhorn Syndrome

A

Delayed growth and development, ID, Greek Warrior helmet

216
Q

Inheritance of Xeroderma Pigmentosum

A

AR

217
Q

2 major features of Xeroderma Pigmentosum

A

Extreme sensitivity to UV rays from sunlight, progressive neurologic abnormalities

218
Q

People with Xeroderma Pigmentosum have increased risk for what type of cancer?

A

Skin

219
Q

Smokers with Xeroderma Pigmentosum have increased risk for what type of cancer?

A

Brain and Lung

220
Q

Inheritance of XL Adrenal Hypoplasia Congenita

A

XL

221
Q

3 major features of XL Adrenal Hypoplasia Congenital

A

Adrenal insufficiency- vomiting, hypoglycaemia; hypogonadotropic hypogonadism

222
Q

Inheritance of XL Adrenoleukodystrophy

A

XLR

223
Q

Major features of Xl adrenoleukodystrophy

A

Males have initially normal dev–behavior/attention changes–problems in school– loss of vision and comprehension, adrenocortical insufficiency

224
Q

People with XL Adrenoleukodystrophy cannot metabolize?

A

Very long chain fatty acids (VLCFA)

225
Q

Inheritance of WAGR syndrome

A

Sporadic

226
Q

Genetic mutation in WAGR syndrome

A

Deletion of 11p

227
Q

What does WAGR stand for?

A

Wilm’s Tumor, Aniridia, GU anomalies, Retardation- ID

228
Q

What does WAGRO stand for?

A

Wilm’s Tumor, Aniridia, GU anomalies, Retardation- ID, Obesity

229
Q

Inheritance of Kennedy’s Disease

A

XLR

230
Q

Mutation in Kennedy’s Disease

A

CAG trinucleotide repeat expansion (>35)

231
Q

3 major features of Kennedy’s Disease

A

Muscle weakness and wasting- cramps, difficulty walking, problems with feeding/swallowing; gynocomastia, infertility

232
Q

Inheritance of Proteus syndrome

A

Not inherited- mosaic

233
Q

3 major features of Proteus syndrome

A

Overgrowth, cerebriform connective tissue nevus on feet, ID, increased risk of pulmonary embolism

x_NeuroGenetics Review (38 decks)

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