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Normal adaptive function with learning disability in duplication 8p including band p22.

S S Sklower Brooks·M Genovese·H Gu·C J Duncan·A Shanske·E C Jenkins
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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.

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Adaptation, PhysiologicalChromosome BandingChromosomes, Human, Pair 8FemaleHumansIn Situ Hybridization, FluorescenceKaryotypingLearning DisabilitiesMalePedigreeTranslocation, GeneticY ChromosomeCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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S S Sklower Brooks, M Genovese, H Gu, C J Duncan, A Shanske, E C Jenkins. 1998-06-30. Normal adaptive function with learning disability in duplication 8p including band p22.. https://doi.org/10.1002/(sici)1096-8628(19980630)78%3A2%3C114%3A%3Aaid-ajmg3%3E3.3.co%3B2-6

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