T2 Trisomes

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Author:
maria_mm_10
ID:
230704
Filename:
T2 Trisomes
Updated:
2013-08-20 15:58:27
Tags:
Human Genetics
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Description:
Test 2
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  1. What are risk factors of trisomies?
    • maternal age
    • previous child
    • exposure to radiation/mutagenic drug
  2. What is hypotoni
    • eventually resolves--> tend to be short
    • mouth open and tongue protrudes
  3. What is the most common chromosomal abnormality?
    Trisomy 21
  4. What are some symptoms of Trisomy 21
    • faces are flattened
    • epicanthic folds
    • gaps between toes
    • brushfold spots on iris
    • cardiac/gastro malformations
  5. What is considered as mental retardation?
    • 30-60
    • hearing problems
    • leukemia
  6. What disease are they prone to as they get older?
    • AD 
    • amyloid precursor protein (APP)
  7. What is clinodatyly?
    pinkie finger is bent towards the finger
  8. What is etiology?
    the reasons that abn occurs
  9. What are the 2 main chromo structures?
    • 3 whole copies (95% of cases) 
    • 2 whole copies and a piece (how much) (translocation)
  10. What are the mechanisms for this to occur?
    • non disjunction during gametogenesis (95%)
    • maternal meiosis I (90%) 
    • paternal meiosis II (10%)
  11. What are the rare cases of T21?
    • mosaicism (1-2%) 
    • have fewer phenotypic
  12. Translocation
    • 46, XX or XY, 21 trans 14 
    • 4% of cases 
    • this is known as balanced translocation
  13. Who is at higher risk for having a Downs baby?
    parent with Robertsonian
  14. What is the mutation of parents?
    translocation parent [rob, 14;21]
  15. What are some screening test?
  16. What are definite ways to determine T21?
    karyotype or FISH at birth
  17. What are other ways to see if T21?
    • Screening test: blood test 
    • false normals
  18. What is found in sonograms?
    • nuchal translucency (thickness of neck) 
    • shortened limbs
  19. What are some diagnostic test?
    • chronic villus sampling 
    • percutaneous umbilical cord sampling 
    • amniocentesis
  20. What is trisomy 18 occurrence?
    • 30: 10000 more in females 
    • <10% survival 
    • hypertonicity 
    • rocker bottom feet
  21. What is trisomy 13?
    • >80% die in the first few months 
    • cleft lip/palate, microcephaly, cardiac, etc
  22. What is Cri du Chat?
    • this is having a deletion of chromo 5
    • mapping bands to the protein in that band
  23. What are the pheno in Cats cry syndrome?
    hypertelorism, epicanthic folds

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