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

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
Externally published	Yes

Keywords

Imprinted
Isodisomy
Paternal
UPD
UPD3
Uniparental disomy

ASJC Scopus subject areas

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.",

keywords = "Imprinted, Isodisomy, Paternal, UPD, UPD3, Uniparental disomy",

author = "Peng Xiao and Pengyuan Liu and Weber, {James L.} and Papasian, {Christopher J.} and Recker, {Robert R.} and Deng, {Hong Wen}",

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volume = "27",

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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

Y1 - 2006/2

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.

KW - Imprinted

KW - Isodisomy

KW - Paternal

KW - UPD

KW - UPD3

KW - Uniparental disomy

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JO - Human Mutation

JF - Human Mutation

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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