title: Case report: uniparental disomy 16 in association with congenital heart disease.
abstract: Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, the only such infant identified at King's College Hospital. The infant had intrauterine growth retardation and minor congenital heart disease.
authors.affiliation: Department of Child Health, King's College Hospital, London, U.K.
authors.forename: S
authors.initials: S
authors.lastname: O'Riordan
authors.forename: A
authors.initials: A
authors.lastname: Greenough
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
authors.forename: P
authors.initials: P
authors.lastname: Bennett
authors.forename: K H
authors.initials: KH
authors.lastname: Nicolaides
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002585:Cesarean Section; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal