Paternal uniparental disomy for chromosome 14: A case report and review

Phillip D. Cotter, Sara Kaffe, Leslie D. McCurdy, Meenakshi Jhaveri, Judith P. Willner, Kurt Hirschhorn

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93 Scopus citations

Abstract

Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD for chromosome 14 in an infant with a 45,XX,der(13q;14q) karyotype, which was confirmed by molecular analysis. The proposita had findings similar to those of the previous cases of patUPD14 and we conclude that there is a characteristic patUPD14 syndrome most likely due to imprinting effects. Couples with Robertsonian translocations involving chromosome 14 should be counseled as to the possibility of UPD14 and the option of prenatal diagnosis when indicated.

Original languageEnglish
Pages (from-to)74-79
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume70
Issue number1
DOIs
StatePublished - 2 May 1997

Keywords

  • Robertsonian translocation
  • chromosome 14
  • imprinting
  • uniparental disomy

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