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Simmons NURP 501 Exam 3 > 10: Which Inheritance Pattern for this Disease? > Flashcards

10: Which Inheritance Pattern for this Disease? Flashcards

1
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Fragile X

A

Changes in structure of chromosome

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2
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Glucose-6-phosphate dehydrogenase deficiency

A

X-linked recessive

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3
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Down syndrome

A

Changes in number of chromosome

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4
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Osteogenesis imperfecta

A

Autosomal dominant

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5
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Prader-Willi

A

Uniparental disomy

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6
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Trisomy 18

A

Changes in number of chromosome

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7
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Familial hypercholesterolemia

A

Autosomal dominant

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8
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Edward syndrome

A

Changes in number of chromosome

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9
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Cornelia de Lange

A

Changes in structure of chromosome

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10
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Scoliosis

A

Multifactorial

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11
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Achondroplastic siblings from normal-appearing parents

A

Germline mosaicism

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12
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Galactosemia

A

Inborn error of metabolism

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13
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Angelman

A

Uniparental disomy

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14
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Cri du chat

A

Changes in structure of chromosome

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15
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Huntington chorea

A

Autosomal dominant

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16
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Duchenne muscular dystrophy

A

X-linked recessive

17
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Sickle cell

A

Autosomal recessive

18
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Tay-Sachs

A

Autosomal recessive

19
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Deafness (possible connection)

A

Mitochondrial

20
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Dislocated hip

A

Multifactorial

21
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Cardiac defects

A

Multifactorial

22
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Non-insulin-dependent diabetes (possibly)

A

Mitochondrial

23
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Asthma

A

Multifactorial

24
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Cystic fibrosis

A

Autosomal recessive

25
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Trisomy 21

A

Changes in number of chromosome

26
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Cleft lip/palate

A

Multifactorial

27
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Hemophilia

A

X-linked recessive

28
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Achondroplasia

A

Autosomal dominant

29
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Leber hereditary optic neuropathy

A

Mitochondrial

30
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Phenylketonuria

A

Autosomal recessive

Inborn error of metabolism

31
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Neurofibromatosis

A

Autosomal dominant

32
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
XO (Turner)

A

Changes in number of chromosome

33
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Patau syndrome

A

Changes in number of chromosome

34
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Clubfoot

A

Multifactorial

35
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Trisomy 13

A

Changes in number of chromosome

36
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
Kearns-Sayre syndrome

A

DNA disorder

37
Q

Which inheritance pattern for this disease: Chromosomal abnormalities: changes in number or changes in structure, single-gene: autosomal dominant, autosomal recessive, X-linked recessive, multifactorial, germline mosaicism, uniparental disomy, mitochondrial, DNA disorder, or inborn error of metabolism?
XXY (Klinefelter)

A

Changes in number of chromosome

Simmons NURP 501 Exam 3 (27 decks)

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