Open AccessTrisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
Author(s) -
Balbeur Samuel,
Grisart Bernard,
Parmentier Benoit,
Sartenaer Daniel,
Leonard PierreEmmanuel,
Ullmann Urielle,
Boulanger Sébastien,
Leroy Luc,
Ngendahayo Placide,
LunguSilviu Constantin,
Lysy Philippe,
Maystadt Isabelle
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.501
Subject(s) - uniparental disomy , trisomy , girl , medicine , karyotype , chromosome , genetics , biology , gene
Key Clinical Message 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.