Term
Which genetic disease is cause by an abnormal karyotype?
a) Down Syndrome
b) Huntington Disease
c) phenylketonuria (PKU)
d) neurofibromatosis
e) cystic fibrosis |
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Definition
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Term
Which is NOT a characteristic of Down Syndrome?
a) it is an autosomal aneuploidy
b) it is a genetic error of metabolism
c) mental retardation is consistently expressed
d) clinical diagnosis can be suggested by facial appearance
e) the karyotype is 47,XY + 21 |
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Definition
| b - it is a genetic error of metabolism |
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Term
Cri-du-chat syndrome is an abnormality of chromosomal structure involving:
a) translocation
b) inversion
c) duplication
d) deletion |
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Definition
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Term
An individual's karyotype lacks a homologous X chromosome and has only a single X chromosome present. Which statement is NOT true?
a) the karyotype is 45, X
b) features include ribbed neck and short stature
c) the karyotype is 46,XY
d) the disorder is a sex chromosome aneuploidy |
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Definition
| c - the karyotype is 46,XY |
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Term
If homologous chromosomes fail to separate during meiosis, the disorder is:
a) polyploidy
b) aneuploidy
c) disjunction
d) nondisjunction
e) translocation |
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Definition
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Term
Cycstic fibrosis has been mapped to chromosome:
a) 17
b) 7
c) X
d) 16 |
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Definition
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Term
In autosomal dominant nherited disorders:
a) affected individuals do not have an affected parent
b) affected persons mating with normal persons have a 50% risk of having and affected offspring
c) male offspring are most often affected
d) unaffected children born to affected parents will have affected children |
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Definition
| b - affected persons mating with normal persons have a 50% risk of having and affected offspring |
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Term
Identify the characteristic(s) of X-linked recessive inherited disorders:
a) affected males have normal sons
b) affected males have affected daughters
c) sons of female carriers have a 50% risk of being affected
d) the affected female may transmit the gene to both sons and daughters |
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Definition
| a, b, c - affected males have normal sons, affected males have affected daughters, sons of female carriers have a 50% risk of being affected |
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Term
When environmental influences cause varied phenotypic expressions of genotypes, the result is:
a) a multifactorial trait
b) a threshold liability
c) an autosomal dominant trait
d) an x-linked recessive train |
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Definition
| a - a multifactorial trait |
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Term
Which likely is NOT a multifactorial inherited disorder?
a) cleft palate
b) hypertension
c) diabetes mellitus
d) cystic fibrosis
e) heart disease |
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Definition
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