02 Study Guide

  1. Which genetic disease is cause by an abnormal karyotype?




    A. Down syndrome
  2. Which is not a characteristic of Down syndrome?




    E. It is a genetic error of metabolism.
  3. Cri-du-chat syndrome is an abnormality of chromosomal structure involving:



    B. deletion.
  4. An individual's karyotype lacks a homologous X chromosome and has only a single X chromosome present. Which statement is not true?



    B. The karyotype is 46, X
  5. If homologous chromosomes fail to separate during meiosis, the disorder is:




    C. nondisjunction.
  6. Cystic fibrosis has been mapped to chromosome:



    D. 7.
  7. In autosomal dominant inherited disorders:



    C. affected persons mating with normal persons have a 50% risk of having an affected offspring.
  8. In X-linked recessive inherited disorders:



    C. sons of female carriers have a 50% risk of being affected.
  9. Which is not an autosomal dominant disease?




    B. Duchenne muscular dystrophy
  10. When environmental influences cause varied phenotypic expressions of genotypes, the result is:



    D. a multifactorial trait.
  11. Which likely is not a multifactorial inherited disorder?




    B. cystic fibrosis
  12. Recessive disorder







    H. individual is homozygous for a gene
  13. Multifactorial inheritance
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    b. two or more cell lines with different karyotypes
  14. Aneuploidy
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    c. two or more cell lines with different karyotypes
  15. Chromosomal aberration
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    a. results from numerical or structural aberrations
  16. Phenotype
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    f. outward appearance of an individual
  17. Pedigree
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    h. summarizes family relationships
  18. Autosomal recessive inheritance
    a. results from numerical or structural aberrations
    b. many genes are common
    c. two or more cell lines with different karyotypes
    d. individual is homozygous for a gene
    e. failure of homologous chromosomes to separate during meiosis or mitosis
    f. outward appearance of an individual
    g. a probability of .25
    h. summarizes family relationships
    g. a probability of .25
  19. Expressivity








    I. extent of phenotypic variaction of a particular genotype
  20. X-linked
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    b. females are unlikely to be affected
  21. Inversion
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    h. no loss or gain of genetic material, reversed order
  22. Dominant trait
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    d. expressed by one allele
  23. Allele
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    f. different version of the same paired gene
  24. 47, XXY
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    g. Klinefelter syndrome
  25. Karyotype
    a. a probablity of .5
    b. females are unlikely to be affected
    c. species chromosomal morphology
    d. expressed by one allele
    e. Turner syndrome
    f. different version of the same paired gene
    g. Klinefelter syndrome
    h. no loss or gain of genetic material, reversed order
    i. extent of phenotypic variation of a particular genotype
    c. species chromosomal morphology
Author
NursyDaisy
ID
137369
Card Set
02 Study Guide
Description
Genes and Genetic Disease
Updated