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- W2031582349 abstract "A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35-week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low-set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker-bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome." @default.
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- W2031582349 date "2008-04-23" @default.
- W2031582349 modified "2023-10-16" @default.
- W2031582349 title "Trisomy 7 and Potter syndrome" @default.
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- W2031582349 doi "https://doi.org/10.1111/j.1399-0004.1984.tb00499.x" @default.
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