02 Study Guide

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NursyDaisy
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137369
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02 Study Guide
Updated:
2012-04-30 23:19:44
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Pathophysiology
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Genes and Genetic Disease
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  1. Which genetic disease is cause by an abnormal karyotype?
    A. cystic fibrosis
    B. phenylketonuria (PKU)
    C. neurofibromatosis
    D. Huntington disease
    E. Down syndrome
    E. Down syndrome
    (this multiple choice question has been scrambled)
  2. Which is not a characteristic of Down syndrome?
    A. It is an autosomal aneuploidy.
    B. Clinical diagnosis can be suggested by facial appearance.
    C. It is a genetic error of metabolism.
    D. The karyotype is 47, XY + 21
    E. Mental retardation is consistently expressed.
    C. It is a genetic error of metabolism.
    (this multiple choice question has been scrambled)
  3. Cri-du-chat syndrome is an abnormality of chromosomal structure involving:
    A. translocation.
    B. deletion.
    C. inversion.
    D. duplication.
    B. deletion.
    (this multiple choice question has been scrambled)
  4. 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, X.
    D. The disorder is a sex chromosome aneuploidy.
    C. The karyotype is 46, X
    (this multiple choice question has been scrambled)
  5. If homologous chromosomes fail to separate during meiosis, the disorder is:
    A. nondisjunction.
    B. disjunction.
    C. translocation.
    D. polyploidy.
    E. aneuploidy.
    A. nondisjunction.
    (this multiple choice question has been scrambled)
  6. Cystic fibrosis has been mapped to chromosome:
    A. X.
    B. 17.
    C. 7.
    D. 16.
    C. 7.
    (this multiple choice question has been scrambled)
  7. In autosomal dominant inherited disorders:
    A. unaffected children born to affected parents will have affected children.
    B. male offspring are most often affected.
    C. affected individuals do not have an affected parent.
    D. affected persons mating with normal persons have a 50% risk of having an affected offspring.
    D. affected persons mating with normal persons have a 50% risk of having an affected offspring.
    (this multiple choice question has been scrambled)
  8. In X-linked recessive inherited disorders:
    A. affected males have affected daughters.
    B. affected males have normal sons.
    C. the affected female may transmit the gene to both sons and daughters.
    D. sons of female carriers have a 50% risk of being affected.
    D. sons of female carriers have a 50% risk of being affected.
    (this multiple choice question has been scrambled)
  9. Which is not an autosomal dominant disease?
    A. Huntington disease
    B. Duchenne muscular dystrophy
    C. neurofibromatosis
    D. von Recklinghausen disease
    E. pyloric stenosis
    B. Duchenne muscular dystrophy
    (this multiple choice question has been scrambled)
  10. When environmental influences cause varied phenotypic expressions of genotypes, the result is:
    A. a threshold liability.
    B. an X-linked recessive trait.
    C. a multifactorial trait.
    D. an autosomal dominant trait.
    C. a multifactorial trait.
    (this multiple choice question has been scrambled)
  11. Which likely is not a multifactorial inherited disorder?
    A. diabetes mellitus
    B. cystic fibrosis
    C. cleft palate
    D. heart disease
    E. hypertension
    B. cystic fibrosis
    (this multiple choice question has been scrambled)
  12. Recessive disorder
    A. a probability of .25
    B. two or more cell lines with different karyotypes
    C. failure of homologous chromosomes to separate during meiosis or mitosis
    D. many genes are common
    E. outward appearance of an individual
    F. individual is homozygous for a gene
    G. summarizes family relationships
    H. results from numerical or structural aberrations
    F. individual is homozygous for a gene
    (this multiple choice question has been scrambled)
  13. Multifactorial inheritance
    A. summarizes family relationships
    B. many genes are common
    C. two or more cell lines with different karyotypes
    D. failure of homologous chromosomes to separate during meiosis or mitosis
    E. outward appearance of an individual
    F. results from numerical or structural aberrations
    G. individual is homozygous for a gene
    H. a probability of .25
    B. two or more cell lines with different karyotypes
    (this multiple choice question has been scrambled)
  14. Aneuploidy
    A. a probability of .25
    B. many genes are common
    C. outward appearance of an individual
    D. results from numerical or structural aberrations
    E. individual is homozygous for a gene
    F. two or more cell lines with different karyotypes
    G. summarizes family relationships
    H. failure of homologous chromosomes to separate during meiosis or mitosis
    F. two or more cell lines with different karyotypes
    (this multiple choice question has been scrambled)
  15. Chromosomal aberration
    A. two or more cell lines with different karyotypes
    B. outward appearance of an individual
    C. results from numerical or structural aberrations
    D. summarizes family relationships
    E. failure of homologous chromosomes to separate during meiosis or mitosis
    F. a probability of .25
    G. individual is homozygous for a gene
    H. many genes are common
    C. results from numerical or structural aberrations
    (this multiple choice question has been scrambled)
  16. Phenotype
    A. summarizes family relationships
    B. failure of homologous chromosomes to separate during meiosis or mitosis
    C. outward appearance of an individual
    D. many genes are common
    E. two or more cell lines with different karyotypes
    F. results from numerical or structural aberrations
    G. individual is homozygous for a gene
    H. a probability of .25
    C. outward appearance of an individual
    (this multiple choice question has been scrambled)
  17. Pedigree
    A. results from numerical or structural aberrations
    B. many genes are common
    C. outward appearance of an individual
    D. individual is homozygous for a gene
    E. failure of homologous chromosomes to separate during meiosis or mitosis
    F. summarizes family relationships
    G. two or more cell lines with different karyotypes
    H. a probability of .25
    F. summarizes family relationships
    (this multiple choice question has been scrambled)
  18. Autosomal recessive inheritance
    A. outward appearance of an individual
    B. many genes are common
    C. a probability of .25
    D. results from numerical or structural aberrations
    E. summarizes family relationships
    F. two or more cell lines with different karyotypes
    G. failure of homologous chromosomes to separate during meiosis or mitosis
    H. individual is homozygous for a gene
    C. a probability of .25
    (this multiple choice question has been scrambled)
  19. Expressivity
    A. Klinefelter syndrome
    B. extent of phenotypic variation of a particular genotype
    C. Turner syndrome
    D. expressed by one allele
    E. species chromosomal morphology
    F. no loss or gain of genetic material, reversed order
    G. different version of the same paired gene
    H. a probablity of .5
    I. females are unlikely to be affected
    B. extent of phenotypic variaction of a particular genotype
    (this multiple choice question has been scrambled)
  20. X-linked
    A. expressed by one allele
    B. a probablity of .5
    C. females are unlikely to be affected
    D. no loss or gain of genetic material, reversed order
    E. Klinefelter syndrome
    F. different version of the same paired gene
    G. Turner syndrome
    H. extent of phenotypic variation of a particular genotype
    I. species chromosomal morphology
    C. females are unlikely to be affected
    (this multiple choice question has been scrambled)
  21. Inversion
    A. Klinefelter syndrome
    B. a probablity of .5
    C. extent of phenotypic variation of a particular genotype
    D. females are unlikely to be affected
    E. different version of the same paired gene
    F. species chromosomal morphology
    G. expressed by one allele
    H. Turner syndrome
    I. no loss or gain of genetic material, reversed order
    I. no loss or gain of genetic material, reversed order
    (this multiple choice question has been scrambled)
  22. Dominant trait
    A. species chromosomal morphology
    B. expressed by one allele
    C. Turner syndrome
    D. Klinefelter syndrome
    E. different version of the same paired gene
    F. no loss or gain of genetic material, reversed order
    G. a probablity of .5
    H. extent of phenotypic variation of a particular genotype
    I. females are unlikely to be affected
    B. expressed by one allele
    (this multiple choice question has been scrambled)
  23. Allele
    A. a probablity of .5
    B. species chromosomal morphology
    C. Klinefelter syndrome
    D. Turner syndrome
    E. different version of the same paired gene
    F. females are unlikely to be affected
    G. no loss or gain of genetic material, reversed order
    H. extent of phenotypic variation of a particular genotype
    I. expressed by one allele
    E. different version of the same paired gene
    (this multiple choice question has been scrambled)
  24. 47, XXY
    A. extent of phenotypic variation of a particular genotype
    B. no loss or gain of genetic material, reversed order
    C. a probablity of .5
    D. expressed by one allele
    E. species chromosomal morphology
    F. Turner syndrome
    G. different version of the same paired gene
    H. females are unlikely to be affected
    I. Klinefelter syndrome
    I. Klinefelter syndrome
    (this multiple choice question has been scrambled)
  25. Karyotype
    A. Klinefelter syndrome
    B. different version of the same paired gene
    C. females are unlikely to be affected
    D. expressed by one allele
    E. Turner syndrome
    F. extent of phenotypic variation of a particular genotype
    G. a probablity of .5
    H. no loss or gain of genetic material, reversed order
    I. species chromosomal morphology
    I. species chromosomal morphology
    (this multiple choice question has been scrambled)

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