title: Paternal uniparental disomy for chromosome 14: a case report and review.
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.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA.
authors.forename: P D
authors.initials: PD
authors.lastname: Cotter
authors.forename: S
authors.initials: S
authors.lastname: Kaffe
authors.forename: L D
authors.initials: LD
authors.lastname: McCurdy
authors.forename: M
authors.initials: M
authors.lastname: Jhaveri
authors.forename: J P
authors.initials: JP
authors.lastname: Willner
authors.forename: K
authors.initials: K
authors.lastname: Hirschhorn
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005819:Genetic Markers; D018392:Genomic Imprinting; D006801:Humans; D007223:Infant; D008214:Lymphocytes; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers