10: Which Inheritance Pattern for this Disease? Flashcards
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
Changes in structure 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?
Glucose-6-phosphate dehydrogenase deficiency
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?
Down 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?
Osteogenesis imperfecta
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?
Prader-Willi
Uniparental disomy
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
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?
Familial hypercholesterolemia
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?
Edward 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?
Cornelia de Lange
Changes in structure 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?
Scoliosis
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?
Achondroplastic siblings from normal-appearing parents
Germline mosaicism
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
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?
Angelman
Uniparental disomy
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
Changes in structure 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?
Huntington chorea
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?
Duchenne muscular dystrophy
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?
Sickle cell
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?
Tay-Sachs
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?
Deafness (possible connection)
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?
Dislocated hip
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?
Cardiac defects
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?
Non-insulin-dependent diabetes (possibly)
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?
Asthma
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?
Cystic fibrosis
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
