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. 2006 Feb;27(2):133-7.
doi: 10.1002/humu.20302.

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

Peng Xiao  1 , Pengyuan Liu, James L Weber, Christopher J Papasian, Robert R Recker, Hong-Wen Deng
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Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

Peng Xiao et al. Hum Mutat. 2006 Feb.

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.

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