title: First confirmed case with paternal uniparental disomy of chromosome 16.
abstract: The existence of paternal uniparental disomy of chromosome 16 [upd(16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomic upd(16)pat is associated with a normal outcome if no recessive mutation is reduced to homozygosity.
authors.affiliation: Institut für Humangenetik, Universität Göttingen, Göttingen, Germany. jkohlha@gwdg.de
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: B
authors.initials: B
authors.lastname: Janssen
authors.forename: K
authors.initials: K
authors.lastname: Weidenauer
authors.forename: K
authors.initials: K
authors.lastname: Harms
authors.forename: I
authors.initials: I
authors.lastname: Bartels
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002885:Chromosomes, Human, Pair 16; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis*