Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

Peng Xiao, Pengyuan Liu, James L. Weber, Christopher J. Papasian, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Uniparental disomy (UPD) is a rare genetic abnormality. During a whole genome linkage study we identified a case of paternal uniparental isodisomy 3 serendipitously. This is the first ascertained human paternal UPD for chromosome 3 (UPD3pat). The finding of this paternal UPD case of the entire chromosome 3 with no apparent phenotypic disorders suggests that there are no paternal imprinted genes causing rare genetic disorders on chromosome 3.

Original languageEnglish (US)
Pages (from-to)133-137
Number of pages5
JournalHuman mutation
Volume27
Issue number2
DOIs
StatePublished - Feb 2006

Keywords

  • Imprinted
  • Isodisomy
  • Paternal
  • UPD
  • UPD3
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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