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Genetic diseases Flashcards

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1
Q

Trisomy 13 is also called?

A

Patau syndrome

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2
Q

Basic mechanism of Patau?

A

Nondisjunction, Translation, or Mosaicism

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3
Q

Clinical features of Trisomy 13?

A

Cleft lip/palate, polydactyly, holoproencephaly

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4
Q

Diagnosis for Trisomy 13?

A

Karyotype

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5
Q

Genetic counseling for Trisomy 13

A

Prenatal diagnosis, recurrence risk, maternal age

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6
Q

Basic mechanisms of Trisomy 18

A

Nondisjunction, translocation, or mosaicism

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7
Q

Another name for Trisomy 18

A

Edwards

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8
Q

Clinical features of Trisomy 18

A

Clenched hand, micrognathia

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9
Q

Diagnosis for Trisomy 18?

A

Karyotype

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10
Q

Genetic counseling for Tisomy 18?

A

Prenatal diagnosis, recurrence risk, maternal age

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11
Q

Trisomy 21 is also known as?

A

Down Syndrome

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12
Q

Basic mechanism of Trisomy 21?

A

Nondisjunction, translocation (Robersonian), or mosaicism

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13
Q

Key features of Trisomy 21

A

Congenital heart disease, single palmar crease, slanted eye fissures, flat facies

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14
Q

Diagnosis of Trisomy 21

A

Karyotype

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15
Q

Genetic counseling for Trisomy 21

A

Prenatal diagnosis-increased nuchal lucency (US scan of fluid at neck in fetus), recurrence risk, maternal age

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16
Q

Genotype for Turner syndrome

A

45X

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17
Q

Basic mechanism for Turner syndrome?

A

Nondisjunction, X structural abnormality, or mosaicism

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18
Q

Clinical features of Turner syndrome

A

Short female, broad chest, congenital lymphadema

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19
Q

Diagnosis of Turner syndrome

A

Karyotype

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20
Q

Genetic counseling for Turner syndrome

A

Prenatal diagnosis - cystic hygroma (lympohcytic malformation/mass typically in neck), fetal hydrops (fluid accumulation in at least two compartments of fetus)

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21
Q

Klinefelter syndrome genotype?

A

47,XXY

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22
Q

Mechanism for Klinefelter?

A

Chromosomal nondisjunction or mosaicism

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23
Q

Clinical features of Klinefelter?

A

Hypogonadism/testicular atrophy, infertility

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24
Q

Diagnosis of Klinefelter?

A

Karyotype

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25
Genetic counseling for Klinefelter?
Recurrence risk - Not increased
26
Cri du chat is also known as?
5p deletion
27
Mechanism for Cri du chat?
De novo or familial chromosome 5 abnormality
28
Clinical features of Cri du chat?
Cat like cry, microencephaly, mental retardation
29
Diagnosis of Cri du chat?
Karyotype or array-CGH (gains or losses of chromosomes or regions of chromosomes)
30
Counseling for Cri du chat?
Recurrence risk - depends on familial vs de novo
31
Two other names for 22q11 deletion syndrome
DiGeorge syndrome | Velocardial-facial syndrome
32
Mechanism of DiGeorge?
22q11 microdelection | Autosomal dominant, de novo, or familial
33
Clinical features of DiGeorge
Neonatal hypocalcemia, congenital heart defects, thymic hypoplasia
34
Diagnosis of DiGeorge
FISH for 22q11, array CGH
35
Array CGH measures for?
Gains or loses of chromosomes or regions of chromsomes
36
Genetic counseling for DiGeorge
Recurrent risk depends on familial vs de novo
37
Mechanism of Williams syndrome
7q11 microdeletion | Autosomal dominant, de novo, or familial
38
Clinical features of Williams syndrome
Friendly personality, supravalvular aortic stenosis, hypercalcemia
39
Diagnosis for Williams syndrome
FISH for 7q11, array CGH
40
Genetic counseling for Williams syndrome
Recurrence risk depends on familial vs de novo
41
Mechanism of Prader-Willi syndrome
Paternal deletion of 15q11-q13 | Maternal uniparental disomy 15 or imprinting defect
42
Clinical features of Prader-Willi
Infantile hypotonia, obesity, mental retardation
43
Diagnosis of Prader-Willi
DNA methylation
44
Recurrence risk of Prader-Willi
Recurrence risk depends on genetic mechanism
45
Angelman syndrome mechanism?
Maternal deletion for 15q11-q13, paternal uniparental disomy, or imprinting defect
46
Clinical features of Angelman
Microcephaly, absent speech, ataxia
47
Diagnosis of Angelman
DNA methylation
48
Genetic counseling for Angelman
Recurrence risk depends on genetic mechanism
49
Mechanism of Rett syndrome
X linked dominant | Lethal in male
50
Clinical features of Rett syndrome
Mental retardation with girl Hand wringing Lethal in males
51
Diagnosis of Rett syndrome
DNA studies
52
Genetic counseling of Rett syndrome
X linked | Recurrence risk - most de novo/simplex
53
Mechanism of fragile X syndrome
X linked | Trinucleotide repeat CGG premutation expansion
54
Clinical features of Fragile X syndrome
Mental retardation in males and females Large ears Macro-orchidism
55
Diagnosis of Fragile X syndrome
DNA studies for size of repeat
56
Genetic counseling for Fragile X syndrome
X linked | Recurrence risk depends on allele size
57
Hemophilia A is deficiency in what factor?
Factor VIII
58
Mechanism of Hemophilia A?
X linked recessive
59
Clinical features of Hemophilia A?
Bleeding disorder
60
Diagnosis of Hemophilia A
Low factor activity of VIII Normal vWF factor level DNA testing
61
Hemophilia B is known as?
Christmas disease | Factor IX deficiency
62
Mechanism of Hemophilia B
X linked recessive
63
Clinical features of Hemophilia B
Bleeding disorder
64
Diagnosis of Hemophilia B
Low factor IX clotting activity | DNA testing
65
Genetic counseling of Hemophilia B
X linked
66
Genetic counseling of Hemophilia A
X linked
67
Mechanism of achondroplasia
Autosomal dominant
68
Clinical features of achondroplasia
Short limbs Dwarfism Large head
69
Diagnosis of Achondroplasia
Clinical features and Xray findings
70
Genetic counseling of achondroplasia
Autosomal dominant | Paternal age
71
Autosomal-dominant polycystic kidney disease (adult)
``` Autosomal dominant (versus ARPKD-infantile) ```
72
Clinical features of ADPKD
Bilateral kidney cystes
73
Diagnosis of ADPKD
Imaging studies of kidneys
74
Genetic counseling of ADPKD
Autosomal dominant
75
Ehlers-Danlos syndrome, classic mechanism?
Autosomal dominant | Connective tissue disorder (Type V collagen)
76
Clinical features of Ehlers-Danlos
Skin hyperextensibility Abnormal wound healing Joint hypermobility
77
Diagnosis of Ehler-Danlos syndrome
Skin hyperextensibility Abnormal wound healing Joint hypermobility
78
Genetic counseling for Ehler-Danlos syndrome
Autosomal dominant
79
Mechanism of Marfan syndrome
Autosomal dominant | Connective tissue disorder (fibrillin)
80
Clinical feature of Marfan
Tall with long arms Arachnodactyly (spider fingers) Aortic aneurysm
81
Diagnosis of Marfan
Tall with long arms Arachnodactyly (spider fingers) Aortic aneurysm
82
Genetic counseling of Marfan
Autosomal dominant
83
Mechanism of Neurofibromatosis Type 1
Autosomal dominant | Neurocutaneous syndrome
84
Neurofibromatosis Type 1 is also called?
Recklinghausen's disease
85
Clinical features of Neurofibromatosis Type 1
Cafe-au-lait spots Axillary/inguinal freckling Lisch nodules (spots on the iris) Neurofibromas (nerve sheath tumors)
86
Diagnosis of Neurofibromatosis Type 1
Cafe-au-lait spots Axillary/inguinal freckling Lisch nodules (spots on the iris) Neurofibromas (nerve sheath tumors)
87
Mechanism of cystic fibrosis
Autosomal Recessive | Mutation of CFTR chloride channel
88
Clinical features of cystic fibrosis
Lung and GI disease
89
Diagnosis of cystic fibrosis
Lung and GI disease Sweat chloride testing DNA testing
90
Genetic counseling for cystic fibrosis
autosomal recessive | Carrier testing
91
Neural tube defect clinical features
Brain and spinal cord birth defects | Spinal bifida and anencephaly
92
Diagnosis of neural tube defects
Clinical fetal ultrasound | Maternal amnio-elevated AFP (alpha-fetal protein)
93
Genetic counseling of neural tube defects
Prenatal diagnosis

Genetics 1 (7 decks)

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