Trisomy 7 and Potter syndrome

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Abstract
A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35-wk gestation and survived 14 h, 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 2 cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.

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