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

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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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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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