Path 1 exam 2

Card Set Information

Author:
Anonymous
ID:
98085
Filename:
Path 1 exam 2
Updated:
2011-08-23 13:30:42
Tags:
UWS
Folders:

Description:
test 2 part 1
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user Anonymous on FreezingBlue Flashcards. What would you like to do?


  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

What would you like to do?

Home > Flashcards > Print Preview