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

Susan Sklower Brooks, Marilyn Genovese, Hong Gu, Charlotte J. Duncan, Alan Shanske, Edmund C. Jenkins

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)114-117
Number of pages4
JournalAmerican journal of medical genetics
Volume78
Issue number2
DOIs
StatePublished - Jun 30 1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Keywords

  • Chromosome 8
  • Chromosome duplication
  • Fluorescent in situ hybridization

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