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- W2045018939 abstract "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 translocation in whom several individuals have duplication 8p22→8pter. These individuals have normal adaptive function despite their unbalanced karyotype. The family was studied with G-banding and fluorescent in situ hybridization (FISH) using probes to chromosomes 8 and Y. Comparison of this family with other reported cases defines a mild clinical outcome for trisomy 8p22→8pter in contrast to the severe findings when the duplication involves a longer, more proximal segment. Am. J. Med. Genet. 78:114–117, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W2045018939 date "1998-06-30" @default.
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- W2045018939 title "Normal adaptive function with learning disability in duplication 8p including band p22" @default.
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- W2045018939 doi "https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>3.0.co;2-o" @default.
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