Portal de Periódicos da CAPES

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

2006; Wiley; Volume: 27; Issue: 2 Linguagem: Inglês

10.1002/humu.20302

1098-1004

Peng Xiao, Pengyuan Liu, James L. Weber, Christopher J. Papasian, Robert R. Recker, Hong‐Wen Deng,

Genomic variations and chromosomal abnormalities

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.