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

Xiao Peng | Zendy; Liu Pengyuan | Zendy; Weber James L. | Zendy; Papasian Christopher J. | Zendy; Recker Robert R. | Zendy; Deng HongWen | Zendy

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

Author(s) -

Xiao Peng,

Liu Pengyuan,

Weber James L.,

Papasian Christopher J.,

Recker Robert R.,

Deng HongWen

Publication year - 2006

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.20302

Subject(s) - uniparental disomy , biology , genetics , hum , genomic imprinting , chromosome , phenotype , gene , karyotype , gene expression , dna methylation , art , performance art , art history

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. Hum Mutat 27(2), 133–137, 2006. © 2006 Wiley‐Liss, Inc.

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