Path 1 exam 2

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  1. physical teratogens
    radiation exposure
  2. chemical teratogens
    thalidomide etc
  3. microbial teratogen
    viruses, bacteria, parasites
  4. FAS
    chemical teratogen during development

    small stature, abnormalities
  5. TORCH(ES)
    • toxoplasma
    • others
    • rubella
    • cytomegalovirus
    • herpesvirus
    • syphylis
  6. chromosomal anomalies
    structural (translocation, deletions, inversions)

    • or
    • numerical - aneuploidy
  7. aneuploidy
    • loss or gain of chromosome
    • hyperdiploidy vs hypodiploidy
  8. down syndrome
    trisomy 21

    drinking age, most common
  9. edwards syndrome
    • tri 18
    • election age
  10. patau syndrome
    tri 13 - puberty
  11. mendelian inheritance
    autosomal dominant (AD) vs recessive (AR)
  12. AD
    • presents in heterozy or homozy
    • either gender
    • usually after puberty
  13. AR
    • presents in homoz
    • either gender
    • usually before puberty
  14. Sex linked dominant
    • more severe in males
    • more prevalent in females
    • no father son transmission
  15. sex linked recessive
    • more severe and more prevalent in males
    • no father son

    females must be homozy or mono x(turners)
  16. Marfans
    • AD
    • defective fibrillin-1 )FBN1
    • connective tissue anomalies
  17. achondroplastic dwarfism
    • AD
    • defective fibroblast growth factor receptor - causes short limbed dwarfism
  18. osteogenesis imperfecta type 1
    • AD
    • mildest severity
    • blue sclera, pain join hypermobility, possible hearing loss
  19. osteogenesis imperfecta type 4
    • AD
    • intermediate severity
    • normal sclera, moderate short stature, hearing loss
  20. familial hypercholesterolemia
    • AD
    • defective or absent LDL receptor, high LDL
    • heterozygots - chol ~300
    • homozyg - >700
    • give high fiber, nicotinic acid
  21. Adult polycystic kidney disease APKD
    • AD
    • defective PKD1 gene
    • altered bilateral renal cilia fxn, flow dysfunction
    • most require renal replacement
    • treatment = decrease protein intake
  22. Sperocytosis
    • AD
    • defective RBC membrane
    • hereditary or autoimmune
    • very fragile RBC, anemia, jaundice
    • - detected by osmotic fragility test or coobs test
  23. huntingtons diseaes
    • AD
    • defective chromosome 4 cause CAG repeat
    • dementia, psych disturbances
    • affects sexes equally

Card Set Information

Author:
 Anonymous
ID:
 98085
Filename:
 Path 1 exam 2
Updated:
2011-08-23 17:30:42
Tags:
UWS
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Description:
test 2 part 1
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