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Partial trisomy 2q

1983; Wiley; Volume: 23; Issue: 3 Linguagem: Inglês

10.1111/j.1399-0004.1983.tb01871.x

1399-0004

Robert E. Schumacher, Albert P. Rocchini, Golder N. Wilson,

Genomics and Rare Diseases

An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.