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

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...

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Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4771849/
https://ncbi.nlm.nih.gov/pubmed/27014449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.501
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