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5 Written questions

5 Matching questions

  1. Def. Urogenital
  2. Sex Reversal: XX males
  3. Smith Lemli Optiz
  4. What kinds of imprinting disorders can arise due to errors on chromsome 15?
  5. Post translational modification
  1. a gonadal sex (have male internal/external sexual organs) is opp. karyotype, translocation of Y to autosome
  2. b AR
    cholesterol synthesis disorder
    Testosterone synthesis is decreased in males
  3. c I cell disease (lysosomal storage disease due to failure to add a phs. group to mannose res. of lys. enzyme)
  4. d Markers/Inverse Duplication, Interstitial Duplication, Deletions
  5. e Penile urethera, Vestibule/Vagina

5 Multiple choice questions

  1. Using LOD scores (Likelihood of data if loci are linked at ___cM)/ (likelihood of data if unlinked)

    can add across family, higher LOD means more likely they are linked (3 is signficant for Mendelian, and 3.3 for Polygenic)
  2. ORs, p values, X squared and Fisher tests
  3. Methylation testing (abnml would see only Maternal meth. patterns) and FISH to confirm
  4. glans/shaft of penis, glans/shaft of clitoris
  5. One inactive X, all females are mosaics and X inactivation occurs regardless of the total number of Xs/Ys present

5 True/False questions

  1. Assemly of monomers into holomeric proteinTypes of OI impairs assembly of normal collagen triple helix


  2. Markers/Inverse Duplication on Chromsome 15Extra marker chromsome, results in hypotonia, autism, siezures


  3. Concordance Ratescompare Mz and Dz twins. If there is increased correlation or concordance for MZ vs. DZ twins, genetics plays more of a role than environment. Same with correlation


  4. What is the phenotype of DSHypotonic, Almond eyes, feeding problems initially which reverse in toddler years, lighter pigmentation, undescended testicles


  5. How is genetic sex determined?Presence of Y chromsome---default is female without it


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