Patho Chapter 2

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  1. Which gentetic disease is caused by an abnormal karyotypes??
    Downs Syndrome
  2. Which is not a characteristic of Downs Syndrome?
    it is a genetic error in metabolism
  3. Cri-du-chat syndrome is an abnormality of chromosomal structure involving:
  4. The individual's karayotype lacks a homologous X-chromosome hand has only a single X chromosome presisent which of the statements are not true?
    The karyotype is 46, XY
  5. If homologous chromosomes fail to separate during meiosis the disorder is ??
  6. Cystic fibrosis has been mapped to chromosome ?
  7. In autosomal dominant inherited disorders?
    affected persons mating with normal person have a 50% risk of having an affected offspring
  8. In X linked recessive inherited disorders?
    affected males have normal sons, sons of female carriers have a 50% risk of being affected, and the affected female may transmit the geneto both sons and daughers.
  9. What is not an autosomal dominant disease?
    Duchenne muscular dystrophy and pyloric stenosis
  10. When enviromental influences cause varied phenotypic expressions of genotype, the result is?
    a multifactorial trait
  11. Which likely is not a multifactorial inherited disorder??
    cystic fibrosis
  12. Genes are?
    the basic units of inheritence and are composed of DNA and are located on chromosomes
  13. What is a mutation?
    an inherited alteration of genetic material
  14. What causes mutations?
  15. What is transcription?
    it is the process by which DNA specifies a sequence of mRNA
  16. What is translation?
    it is the process by which RNA directs the syntheses of polypeptides. This process takes place in the ribosomes which consist of proteines and rRNA
  17. What do human cells consist of ?
    Diploid somatic cells (body) ad haploid gametes (sperm and egg)
  18. How many chromosomes do humans have?
    23 pairs, 22 of these pairs are autosomes and the remaing consist of the sex chromosomes
  19. What is Trisomy?
    it is a type of aneuploidy in which one chromosome is present in three copies in somatic cells. A partial trisomy is one which only part of a chromosome is present in three copies.
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Patho Chapter 2
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