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8 Cards in this Set

  • Front
  • Back
Down syndrome incidence
Down syndrome mutations
- 95% have trisomy 21
- 4% from translocation (usually 14,21)
- 1% mosaics w/ normal cell line
Down syndrome management of newborns
- do echo and peds cardio exam
- thyroid scan
- check hearing and vision
Down syndrome management of children
- have them see a peds optamologist at 1
- use DS growth charts and watch for obesity in late childhood
- Cervical spine b/t 3-5 for alantoaxial instability or subluxation
what is the mean age of survival in CF? how do they die?
31, from pulmonary complications
what is the CF incidence?
- 1 in 2500 to 1 in 3200 of N. European & Ashkenazi Jews
- 1 in 15,000 in African-Americans
what is the gene affected in CF?
- 1400 in CFTR, or 7q31.2
- most common (70%) is deltaF508, a 3 base pair deletion
- 6 mutations account for 98% of Ashkenazi Jews
CF lab tests
- genetic, 23 genes recommended, more usually inculded
- 90% of carries can be detected w/ genetic test