10: Which Inheritance Pattern for this Disease? Flashcards by allie see

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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

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

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

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

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

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

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

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

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

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

Changes in number of chromosome

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

Multifactorial

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

X-linked recessive

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

Autosomal dominant

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

Mitochondrial

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

Autosomal recessive | Inborn error of metabolism

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

Autosomal dominant

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)

Changes in number of chromosome

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

Changes in number of chromosome

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

Multifactorial

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

Changes in number of chromosome

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

DNA disorder

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)

Changes in number of chromosome