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

doi:10.1002/humu.20302

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

Department of Medicine

Research output: Contribution to journal › Article › peer-review

17 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 language	English (US)
Pages (from-to)	133-137
Number of pages	5
Journal	Human mutation
Volume	27
Issue number	2
DOIs	https://doi.org/10.1002/humu.20302
State	Published - Feb 2006

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/humu.20302

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

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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AU - Xiao, Peng

AU - Liu, Pengyuan

AU - Weber, James L.

AU - Papasian, Christopher J.

AU - Recker, Robert R.

AU - Deng, Hong Wen

PY - 2006/2

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N2 - 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.

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

Abstract

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