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