title: Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
abstract: Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Samuel
authors.initials: S
authors.lastname: Balbeur
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Grisart
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Benoit
authors.initials: B
authors.lastname: Parmentier
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Daniel
authors.initials: D
authors.lastname: Sartenaer
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Pierre-Emmanuel
authors.initials: PE
authors.lastname: Leonard
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Urielle
authors.initials: U
authors.lastname: Ullmann
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Boulanger
authors.affiliation: Department of Anatomo-Pathology Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Luc
authors.initials: L
authors.lastname: Leroy
authors.affiliation: Department of Anatomo-Pathology Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Placide
authors.initials: P
authors.lastname: Ngendahayo
authors.affiliation: Department of Pediatrics INDC Entité Jolimontoise Lobbes Belgium.
authors.forename: Constantin
authors.initials: C
authors.lastname: Lungu-Silviu
authors.affiliation: Department of Pediatrics Endocrinology Cliniques Universitaires Saint-Luc Bruxelles Belgium.
authors.forename: Philippe
authors.initials: P
authors.lastname: Lysy
authors.affiliation: Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
keywords: Abnormal skin pigmentation pattern; Prader–Willi‐like phenotype; genomic imprinting; intellectual disability; maternal uniparental disomy of chromosome 14; precocious puberty; trisomy 14