Genetics final

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Author:
Jswink
ID:
218081
Filename:
Genetics final
Updated:
2013-05-06 14:56:23
Tags:
genetics
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Final diseases
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  1. Achondroplasia
    AD, FGF receptor mutation (new mutation)
  2. Familial hypercholesterolemia
    AD, LDL receptor mutation, allelic heterogeneity
  3. Familial colon cancer
    AD, locus heterogeneity
  4. Huntington-chorea
    AD, trinucleotide repeat, anticipation
  5. Marfan syndrome
    AD, fibrillin mutation, variable expressivity
  6. Myotonic dystrophy
    AD, with anticipation; characterized by wasting of the muscles
  7. Neurofibromatosis
    AD, variable expressivity; disordered skin pigmentation
  8. Osteogenesis imperfecta
    AD, collegen mutation, variable expressivity, allelic heterogeneity
  9. Polycystic kidney disease
    AD, with delayed onset
  10. Polydactyly
    AD, variable expressivity: extra fingers
  11. Retinitis pigmentosa
    AD, allelic heterogeneity:  vision
  12. Sickle cell anemia
    AR, environmental effect on allele frequency
  13. Tay-Sachs disease
    AR, environmental effect on allele frequency
  14. α 1- antitrypsin deficiency
    AR, emphysema
  15. Congenital deafness
    AR, locus heterogeneity
  16. Cystic fibrosis
    AR, mutationof CF transmembrane regulator gene
  17. Phenylketonurea
    AR, deficiency ofphenylalanine hydroxylase
  18. Talassemia
    AR,hemoglobin mutation, allelic heterogeneity
  19. Color vision defect
    XR,deficiency in red and/or green color vision
  20. Duchenne muscular dystrophy
    XR, early onset
  21. G6PD
    XR, enzymedeficiency, environmental effect
  22. Hemophilia
    XR,deficiency of blood clotting factor
  23. Testicular feminization
    XR, testosterone receptor mutation
  24. Hypophosphatemia
    XD, unresponsive tovitamin D treatment (soft bone)
  25. Fragile X syndrome
    XD, trinucleotiderepeat, anticipation, variable penetrance
  26. Prader-Willi syndrome
    15q microdeletion, genomicimprinting (paternal deletion)
  27. Angelman syndrome
    15q microdeletion,genomic imprinting (maternal deletion)
  28. “Super men” syndrome
    47 chr, XYY
  29. “Super women” syndrome
    47 chr, XXX
  30. Down-syndrome
    47 chr, 21 trisomy
  31. Edwards syndrome
    47 chr, 18trisomy;heart abnormalities, kidney malformations, and other internal organ disorders.
  32. Klinefelter syndrome
    47 chr, XXY
  33. Patau syndrome
    47chr, 13 trisomy;multiple and complex organ defects.
  34. Turner syndrome
    45 chr, XO
  35. Xeroderma pigmentosum
    AR. repair enzyme deficiency Skin problem
  36. Bloom syndrome
    genome instability; short stature, sun sensitivity, poor immunity, impaired fertility
  37. Cri du chat
    5p chromosomal deletion

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