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19 Cards in this Set
- Front
- Back
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what is considered advanced parental age |
35 years |
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how far back should a genogram go |
3 generations |
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Down Syndrome |
Trisomy 21 |
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what increases risk of Down's syndrome |
advanced parental age |
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Down's Syndrome typical physical findings |
microcephaly flat nose protruding tongue inner epicanthal folds upward slanting eyes hypotonia |
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XXY Syndrome aka |
Klinefelter Syndrome |
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Klinefelter Syndrome occurs in |
ONLY MALES (extra X chromosome) |
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Klinefelter Syndrome genotype |
XXY (extra x in male) |
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when do Klinefelter babies start to show symptoms |
during puberty |
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how may Klinefelters patient initially present |
infertility |
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Klinefelter phenotype |
tall and lanky gynecomastia underdeveloped secondary sex characteristics |
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Turner's Syndrome |
XO karyotype |
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most common sex-chromosome anomaly in females |
Turner's |
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Turner's typical findings |
webbed neck lymphedema lack of secondary sex characteristics shield shaped chest |
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inherited connective tissue disorder |
Marfans |
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Marfan phenotype |
arm span > height tall pectus carinatum or excavatum cardiovacular (MVP, aortic regurg) |
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Tay Sachs more common in |
Ashkenazi Jewish |
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Tay Sachs presentation |
normal at birth deteriorate between 3-6 months decreased muscle tone, cherry red macula, blind, deaf, sz, death |
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genotypes for Downs Klinefelters Turner's |
Down: trisomy 21 Klinefelter: XXY Turner: XO |
