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9 Cards in this Set
- Front
- Back
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What is the second most common liveborn autosomal trisomy? |
Edwards syndrome |
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What are the clinical features of Edwards syndrome? |
Abnormal muscular growth; prenatal growth deficiency; small eyes, small mouth, small jaw, low ears; overlapping fingers, nil hypoplasia, rocker bottom feet; short sternum, hirsutism, cardiac anomalies, ID |
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What are the genetics of Edwards syndrome? |
90-95% possess full trisomy; 95% as a result of maternal nondisjunction. RF: AMA 5-10% possess mosaic trisomy |
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What is the karyotype of someone with Edwards syndrome? |
(47, XY, +18) |
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What are the implications of mosaicism or partial trisomy of Edwards syndrome? |
Mosaicism: slightly muted expression; longer survival Trisomy for the entire 18q= phenotype matches full trisomy Trisomy for distal 1/3 of 18q= longer survival, less delay |
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When is Edwards syndrome diagnosed? How? |
Ultrasound- 70-80% sensitive. Recognizable by 13th week GA. Common cause: IUGR |
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How else can Edwards syndrome be diagnosed? |
CVS, AC, Maternal serum screen |
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Is there a high recurrence of Edwards syndrome in families? |
No, ~1% |
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What is the purpose of pre-natal testing for Edwards' syndrome? |
Preparation for families and medical teams; selective abortion? |
