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Am J Med Genet. 1996 Jan 2;61(1):45-8.

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

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1
Division of Clinical Genetics, University of Toronto, Ontario, Canada.

Abstract

We report on a terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)] in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compared to those of four previously reported cases with terminal del (3q).

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