NORMAL ADAPTIVE FUNCTION WITH LEARNING-DISABILITY IN DUPLICATION 8P INCLUDING BAND P22

Duplication 8p usually results in a syndrome characterized by profound mental retardation, mild facial anomalies, and malformations of hand, heart, and brain, We report on a large kindred segregating a Y;8 tran slocation in whom several individuals have duplication 8p22-->8pter. T hese individuals have normal adaptive function despite their unbalance d karyotype, The family was studied with G-banding and fluorescent in situ hybridization (FISH) using probes to chromosomes 8 and Y, Compari son of this family with other reported cases defines a mild clinical o utcome for trisomy 8p22-->8pter in contrast to the severe findings whe n the duplication involves a longer, more proximal segment. Am. J, Med , Genet, 78:114-117, 1998, (C) 1998 Wiley-Liss, Inc.