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5 Written questions

5 Matching questions

  1. Why is sexual reproduction biologically advantageous
  2. Kallman Syndrome
  3. Leydig Cell Hypoplasia
  4. Describe genetic regulation of sexual differentiation
  5. Urethral fold
  1. a Penis around penile urethera, labia minora
  2. b speeds evolution, contributes to survivial of species by increasing genetic variability, protects and preserves species
  3. c AR
    Lack of testosterone production, defect involves mutation in LH receptor
  4. d AR and X linked
    hypothalamic maldevelopment
    Gonadotropin deficiency, hypgenitalism
  5. e 1. establish genetic sex through presence of X or Y chromsome

    2. Formation of sex specific gonads

    3. Development of internal/external reproductive organs

5 Multiple choice questions

  1. 1. Sex independent pregonadal stage (migrate to gonads)
    2. Gonadal stage (develop and mature)
  2. depends on diff. of brain and culturally dependent behavioral programming
  3. SNPs on GABA locus of chromsome 15
  4. deletions, insertions, rearrangements that eliminate or reduce the function of the protein

    DMD, Thalassemia, Turner, Hereditary Rboma,HNPP, OI 1, Metabolic and Protein Function diseases
  5. AR
    Testosterone can't mature into dihydrotestosterone with incomplete phallic dev. sever hypospadias

5 True/False questions

  1. Genetic Association StudiesCandidate Gene Study (Hyp. Driven) and GWAS

          

  2. What is AnticipationThalassemias (decrease transcription) and HPFH (increases transcription)

          

  3. What are characteristics of disease that have multifactorial inheritanceIncreased risk ot relatives but no consistent pattern of inheritance within families, multiple genes AND environmental factors contribute

          

  4. What are Medical Problems associated with DSHeart defects (endocardial cushion defects), AVC, GI defects (polyhydramnios) Hirshprungs disease, small tear ducts, eustachian tubes, frequent ear infections, small airway with increased tonsils and adenoids, strabismus, nystagmus, cataracts, myopia,hearing loss, thryoid and autoimmone problems

          

  5. Phenotype of Angelman's SyndromeMild hypotonia which turns to spasticity, increased intellectual disabilities compared to PWS, autism, seizures, No feeding or obesity issues, prominent chin, seen in couples who turn to ART