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

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