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8 Cards in this Set
- Front
- Back
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Down syndrome incidence
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1/700
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Down syndrome mutations
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- 95% have trisomy 21
- 4% from translocation (usually 14,21) - 1% mosaics w/ normal cell line |
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Down syndrome management of newborns
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- do echo and peds cardio exam
- thyroid scan - check hearing and vision |
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Down syndrome management of children
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- 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 |
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what is the mean age of survival in CF? how do they die?
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31, from pulmonary complications
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what is the CF incidence?
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- 1 in 2500 to 1 in 3200 of N. European & Ashkenazi Jews
- 1 in 15,000 in African-Americans |
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what is the gene affected in CF?
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- 1400 in CFTR, or 7q31.2
- most common (70%) is deltaF508, a 3 base pair deletion - 6 mutations account for 98% of Ashkenazi Jews |
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CF lab tests
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- genetic, 23 genes recommended, more usually inculded
- 90% of carries can be detected w/ genetic test |
