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Genetics 1 > Genetic diseases > Flashcards

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
Q

Genetic counseling for Klinefelter?

A

Recurrence risk - Not increased

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26
Q

Cri du chat is also known as?

A

5p deletion

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27
Q

Mechanism for Cri du chat?

A

De novo or familial chromosome 5 abnormality

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28
Q

Clinical features of Cri du chat?

A

Cat like cry, microencephaly, mental retardation

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29
Q

Diagnosis of Cri du chat?

A

Karyotype or array-CGH (gains or losses of chromosomes or regions of chromosomes)

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30
Q

Counseling for Cri du chat?

A

Recurrence risk - depends on familial vs de novo

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31
Q

Two other names for 22q11 deletion syndrome

A

DiGeorge syndrome

Velocardial-facial syndrome

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32
Q

Mechanism of DiGeorge?

A

22q11 microdelection

Autosomal dominant, de novo, or familial

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33
Q

Clinical features of DiGeorge

A

Neonatal hypocalcemia, congenital heart defects, thymic hypoplasia

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34
Q

Diagnosis of DiGeorge

A

FISH for 22q11, array CGH

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35
Q

Array CGH measures for?

A

Gains or loses of chromosomes or regions of chromsomes

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36
Q

Genetic counseling for DiGeorge

A

Recurrent risk depends on familial vs de novo

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37
Q

Mechanism of Williams syndrome

A

7q11 microdeletion

Autosomal dominant, de novo, or familial

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38
Q

Clinical features of Williams syndrome

A

Friendly personality, supravalvular aortic stenosis, hypercalcemia

39
Q

Diagnosis for Williams syndrome

A

FISH for 7q11, array CGH

40
Q

Genetic counseling for Williams syndrome

A

Recurrence risk depends on familial vs de novo

41
Q

Mechanism of Prader-Willi syndrome

A

Paternal deletion of 15q11-q13

Maternal uniparental disomy 15 or imprinting defect

42
Q

Clinical features of Prader-Willi

A

Infantile hypotonia, obesity, mental retardation

43
Q

Diagnosis of Prader-Willi

A

DNA methylation

44
Q

Recurrence risk of Prader-Willi

A

Recurrence risk depends on genetic mechanism

45
Q

Angelman syndrome mechanism?

A

Maternal deletion for 15q11-q13, paternal uniparental disomy, or imprinting defect

46
Q

Clinical features of Angelman

A

Microcephaly, absent speech, ataxia

47
Q

Diagnosis of Angelman

A

DNA methylation

48
Q

Genetic counseling for Angelman

A

Recurrence risk depends on genetic mechanism

49
Q

Mechanism of Rett syndrome

A

X linked dominant

Lethal in male

50
Q

Clinical features of Rett syndrome

A

Mental retardation with girl
Hand wringing
Lethal in males

51
Q

Diagnosis of Rett syndrome

A

DNA studies

52
Q

Genetic counseling of Rett syndrome

A

X linked

Recurrence risk - most de novo/simplex

53
Q

Mechanism of fragile X syndrome

A

X linked

Trinucleotide repeat CGG premutation expansion

54
Q

Clinical features of Fragile X syndrome

A

Mental retardation in males and females
Large ears
Macro-orchidism

55
Q

Diagnosis of Fragile X syndrome

A

DNA studies for size of repeat

56
Q

Genetic counseling for Fragile X syndrome

A

X linked

Recurrence risk depends on allele size

57
Q

Hemophilia A is deficiency in what factor?

A

Factor VIII

58
Q

Mechanism of Hemophilia A?

A

X linked recessive

59
Q

Clinical features of Hemophilia A?

A

Bleeding disorder

60
Q

Diagnosis of Hemophilia A

A

Low factor activity of VIII
Normal vWF factor level
DNA testing

61
Q

Hemophilia B is known as?

A

Christmas disease

Factor IX deficiency

62
Q

Mechanism of Hemophilia B

A

X linked recessive

63
Q

Clinical features of Hemophilia B

A

Bleeding disorder

64
Q

Diagnosis of Hemophilia B

A

Low factor IX clotting activity

DNA testing

65
Q

Genetic counseling of Hemophilia B

A

X linked

66
Q

Genetic counseling of Hemophilia A

A

X linked

67
Q

Mechanism of achondroplasia

A

Autosomal dominant

68
Q

Clinical features of achondroplasia

A

Short limbs
Dwarfism
Large head

69
Q

Diagnosis of Achondroplasia

A

Clinical features and Xray findings

70
Q

Genetic counseling of achondroplasia

A

Autosomal dominant

Paternal age

71
Q

Autosomal-dominant polycystic kidney disease (adult)

A 
Autosomal dominant
(versus ARPKD-infantile)
72
Q

Clinical features of ADPKD

A

Bilateral kidney cystes

73
Q

Diagnosis of ADPKD

A

Imaging studies of kidneys

74
Q

Genetic counseling of ADPKD

A

Autosomal dominant

75
Q

Ehlers-Danlos syndrome, classic mechanism?

A

Autosomal dominant

Connective tissue disorder (Type V collagen)

76
Q

Clinical features of Ehlers-Danlos

A

Skin hyperextensibility
Abnormal wound healing
Joint hypermobility

77
Q

Diagnosis of Ehler-Danlos syndrome

A

Skin hyperextensibility
Abnormal wound healing
Joint hypermobility

78
Q

Genetic counseling for Ehler-Danlos syndrome

A

Autosomal dominant

79
Q

Mechanism of Marfan syndrome

A

Autosomal dominant

Connective tissue disorder (fibrillin)

80
Q

Clinical feature of Marfan

A

Tall with long arms
Arachnodactyly (spider fingers)
Aortic aneurysm

81
Q

Diagnosis of Marfan

A

Tall with long arms
Arachnodactyly (spider fingers)
Aortic aneurysm

82
Q

Genetic counseling of Marfan

A

Autosomal dominant

83
Q

Mechanism of Neurofibromatosis Type 1

A

Autosomal dominant

Neurocutaneous syndrome

84
Q

Neurofibromatosis Type 1 is also called?

A

Recklinghausen’s disease

85
Q

Clinical features of Neurofibromatosis Type 1

A

Cafe-au-lait spots
Axillary/inguinal freckling
Lisch nodules (spots on the iris)
Neurofibromas (nerve sheath tumors)

86
Q

Diagnosis of Neurofibromatosis Type 1

A

Cafe-au-lait spots
Axillary/inguinal freckling
Lisch nodules (spots on the iris)
Neurofibromas (nerve sheath tumors)

87
Q

Mechanism of cystic fibrosis

A

Autosomal Recessive

Mutation of CFTR chloride channel

88
Q

Clinical features of cystic fibrosis

A

Lung and GI disease

89
Q

Diagnosis of cystic fibrosis

A

Lung and GI disease
Sweat chloride testing
DNA testing

90
Q

Genetic counseling for cystic fibrosis

A

autosomal recessive

Carrier testing

91
Q

Neural tube defect clinical features

A

Brain and spinal cord birth defects

Spinal bifida and anencephaly

92
Q

Diagnosis of neural tube defects

A

Clinical fetal ultrasound

Maternal amnio-elevated AFP (alpha-fetal protein)

93
Q

Genetic counseling of neural tube defects

A

Prenatal diagnosis

Genetics 1 (7 decks)

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