Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.

Balbeur, Samuel; Grisart, Bernard; Parmentier, Benoit; Sartenaer, Daniel; Leonard, Pierre-Emmanuel; Ullmann, Urielle; Boulanger, Sébastien; Leroy, Luc; Ngendahayo, Placide; Lungu-Silviu, Constantin; Lysy, Philippe; Maystadt, Isabelle.

Afiliação

Balbeur S; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Grisart B; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Parmentier B; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Sartenaer D; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Leonard PE; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Ullmann U; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Boulanger S; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.
Leroy L; Department of Anatomo-Pathology Institut de Pathologie et de Génétique Gosselies Belgium.
Ngendahayo P; Department of Anatomo-Pathology Institut de Pathologie et de Génétique Gosselies Belgium.
Lungu-Silviu C; Department of Pediatrics INDC Entité Jolimontoise Lobbes Belgium.
Lysy P; Department of Pediatrics Endocrinology Cliniques Universitaires Saint-Luc Bruxelles Belgium.
Maystadt I; Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.

Clin Case Rep ; 4(3): 265-71, 2016 Mar.

Article em En | MEDLINE | ID: mdl-27014449

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.

Palavras-chave

Abnormal skin pigmentation pattern; PraderWillilike phenotype; genomic imprinting; intellectual disability; maternal uniparental disomy of chromosome 14; precocious puberty; trisomy 14

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article