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

12 Citations (Scopus)

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
Pages (from-to)133-137
Number of pages5
JournalHuman Mutation
Volume27
Issue number2
DOIs
StatePublished - Feb 2006

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Uniparental Disomy
Chromosomes, Human, Pair 3
Inborn Genetic Diseases
Genome
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders. / Xiao, Peng; Liu, Pengyuan; Weber, James L.; Papasian, Christopher J.; Recker, Robert R.; Deng, Hong Wen.

In: Human Mutation, Vol. 27, No. 2, 02.2006, p. 133-137.

Research output: Contribution to journalArticle

Xiao, Peng ; Liu, Pengyuan ; Weber, James L. ; Papasian, Christopher J. ; Recker, Robert R. ; Deng, Hong Wen. / Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders. In: Human Mutation. 2006 ; Vol. 27, No. 2. pp. 133-137.
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