Abstract
A female infant of non-consanguineous, healthy 40-year-old parents without family history of renal disease died one hour after birth following a 38 week gestation. She had a peculiar facial appearance with a flattened nasal bridge, epicanthic folds, micrognathia, and low-set ears. She also had a midline cleft palate, hyperextensible joints, and bilateral hip dislocation. The most significant finding at autopsy was bilateral polycystic disease of the kidneys, shown to be Potter's type II. The ovaries were also multicystic. Leukocyte culture showed the presence of 47 chromosomes, with an extra autosome in group C; there was no evidence of mosaicism. This is the first report of a viable infant with non-mosaic trisomy for a group C autosome.
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