Clinical Cytogenetics

  1. All non random mating increases the frequency of autosomal recessive disease except what?
    negative assortment mating---mating with individuals that are different than you
  2. Whats the difference between Euploidy and Aneuploidy?
    • Euploidy--change in the whole set of chromosome
    • i.e haploidy, diploidy, triploidy, tetraploidy
    • Aneuploidy--monosomy, trisomy
  3. What is a nullisomic aneuploidy?
    • one pair of chromosomes is missing from a diploid set
    • i.e 2N-2
    • monosomy--2N-1
  4. most of the nondisjunctions occur in meiosis I or II?
  5. in trisomy 21, nondisjunction is in mother or father?
  6. 5 % of trisomy is caused by what?
    Chromosomal translocation
  7. Prominent occiput, Clenched fists, rocker bottom feet are characteristic of what trisomy?
  8. Polydyctaly, cleft palate
  9. In turner syndrome the x is inherited from whom?
  10. What happens to person who receives the x from the father?
    higher IQ
  11. Short statue in XO individuals is due to absence of what?
    Shox genes located in the pseudoautosomal region of X and Y
  12. Microdeletion of P arm of chromsome 5
    Cri du Chat
  13. Microdeletion of q arm of chromosome 15?
    • Prader willi---paternal
    • Angelman---maternal
  14. Camptomelic Dysplasia
    Sox9 on q arm of chromsome 17
  15. Duplication of Sox9 on chr 17 may cause what?
    sex reversal in females
  16. Females pseudohermaphroditism is caused by?
    CAH---21 alpha deficiency
  17. Whats an example of a genome mutation?
    trisomy or monosomy
  18. Whats a chromosomal mutation?
    insertion, deletion, inversion, translocation
  19. Deamination and methylation of cytosine produces what nt?
  20. Unequal crossing over often results in what hemoglobinopathy?
    alpha thalassemia
  21. Hypercholesterimia , hemophilia A and Alpha thalasemia are commonly caused by?
    unequal crossing over
  22. How are human mutation rates expressed?
    new mutation per locus per generation
  23. Whats a good example for studying human mutation rate?
  24. Why do NF1 and DMD have high rates of mutations?
    because they are very large genes
  25. High risk for nondisjunction with age is seen in what gender?
  26. High risk for replication error with age are seen in what gender?
  27. For highly penetrant AD disorder point mutation form what origin are common?
  28. What is a good example of anticipation?
  29. Microsatelites consist of few nucleotides repeated how many times?
  30. Minisatellites consist of 50 nts repeated how many times?
  31. Copy number polymorphisms are how big?
    2 mega bytes
  32. Comparative Genome Hybridization used what?
    Copy number polymorphisms
  33. Blood group antigens are on what chromosome?
  34. What gives B antigen?
  35. What gives A sugar?
    N acetylgalactosamine
  36. MHC genes are on what chromosome?
  37. Class I MHC
    • A
    • B
    • C
  38. Class II MHC?
    • DQ
    • DR
    • Dp
  39. Ankylosis Spondylitis is characterized by what haplotype?
  40. Whats an example of an HLA haplotype showing linkage disequilibrium in a disease?
Card Set
Clinical Cytogenetics
Clinical Cytogenetics