Genetics diseases

  1. Receptor in achondroplasia
    FGFR3--constitutively active
  2. What is a charateristic of Patau syndrome?
    • mental retardation
    • Cleft lip and palate
  3. What is a characteristic of Edwards syndrome?
    • Prominent occipital bone
    • Hypertonicity
  4. Cri du Chat?
    • deletion on ch 5
    • childs cry sounds like a meowing
  5. Prader-Willi syndrom and Angelman syndrome?
    • deletion in q arm of ch 15
    • Prader-Willi syndrom--fathers chr inherited
    • Angelman syndrome-mothers ch inherited
  6. Camptomelic dysplasia
    • sex reversal
    • SOX9 gene in 17q
    • hyperactivity of SOX9 gene causes testis development in absence of SRY gene
  7. SRY gene
    TDF present on Y chromosome
  8. Congenital adrenal hyperplasia*
    • affects cortisol biosynthesis in adrenal cortex
    • 21 beta hydroxylase
    • ovarian tissue but external male genitalia
    • xx karyotype
  9. Male pseudohermaphroditism
    XY genotype with female external genitalia
  10. large z lod score means?
    genetic linkage
  11. Branching in glycogen serves what purpose?
    increases solubility
Card Set
Genetics diseases
Genetics diseases