PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14 - A CASE-REPORT AND REVIEW

Uniparental disomy (UPD) for several chromosomes has been associated w ith disease phenotypes, Maternal UPD for chromosome 14 has been descri bed and has a characteristic abnormal phenotype, Paternal UPD14 is rar e 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(1 3q;14q) karyotype, which was confirmed by molecular analysis, The prop osita 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 translocat ions involving chromosome 14 should be counseled as to the possibility of UPD14 and the option of prenatal diagnosis when indicated. (C) 199 7 Wiley-Liss, Inc.