三体挽救机制：一名15岁女孩同时存在14号染色体嵌合三体和母源单亲二体14的病例

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

作者信息

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

机构信息

Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium.

Department of Anatomo-Pathology Institut de Pathologie et de Génétique Gosselies Belgium.

出版信息

Clin Case Rep. 2016 Feb 2;4(3):265-71. doi: 10.1002/ccr3.501. eCollection 2016 Mar.

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.