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5 Written Questions

5 Matching Questions

  1. 10-15% of genes
  2. What are challenges for TS patients across lifespan
  3. How is an X/autosomal translocation diagnosed
  4. Mullerian
  5. Novel Property (uncommon)
  1. a Infertility, Stature, Sexual Dev. Concerns regarding health and aging
  2. b escape inactivation on Xp
  3. c Paramesonephros
  4. d She has a X linked recessive disease (because she shouldn't be expressing that unless she has to abnormal Xs to choose from---it also means ALL her cells are inactivating the same X)

    can also diagnose with methylation pattern
  5. e missense mutation confers new property without changing normal function

    Sickle Cell Anemia--Glu6Val transp. 02 normally but also pol. under low 02 conditions

    Huntingtons expansion of CAG causs increase in glut. residues which causes huntington protein to be Toxic

5 Multiple Choice Questions

  1. Thalassemia due to non functional/rapidly degrading mRNAs with nonsense/frameshift mutations
  2. Methylation testing (abnml would see only Maternal meth. patterns) and FISH to confirm
  3. Both ovarian and testicular tissue present (XX, XY mosaics)
  4. depends on diff. of brain and culturally dependent behavioral programming
  5. Klinfelter's
    gonadal dysgenesis
    decreased testosterone, failed maturation of spermatogonia, tall, gynecomastia, increased impulsive behavior

5 True/False Questions

  1. Genetic Linkage StudyHyp. driven
    Studies gene directly
    good for mendelian/complex
    most hyp. wrong
    have to apply bonferroni correction

    can look for variations in candidate gene tagged by nearby markers between cases and controls

    Must match
    Watch out for stratification (leads to false positives)


  2. Smith Lemli OptizPenis around penile urethera, labia minora


  3. What is the phenotype of Turner's SyndromeBrachecelphaly, Mid face hypoplasia, upslanting palpebral fissures, epicanthal folds, brushfield spots, dysplastic small pinnae, heart murmer, genitalia may be abnormal, incurving pinky finger, bracehdactyly, increased space between toes, increased joint ROM, diffuse hypotonia


  4. Subcellular localization of PolypeptideX linked
    Androgen Insensitvity Syndrome


  5. How do germ cells develop1. Sex independent pregonadal stage (migrate to gonads)
    2. Gonadal stage (develop and mature)


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