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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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771849/
https://www.ncbi.nlm.nih.gov/pubmed/27014449
http://dx.doi.org/10.1002/ccr3.501
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author 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
author_facet 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
author_sort Balbeur, Samuel
collection PubMed
description 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.
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spelling pubmed-47718492016-03-24 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-02-02 /pmc/articles/PMC4771849/ /pubmed/27014449 http://dx.doi.org/10.1002/ccr3.501 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
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
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title_full Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title_fullStr Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title_full_unstemmed Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title_short Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
title_sort trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771849/
https://www.ncbi.nlm.nih.gov/pubmed/27014449
http://dx.doi.org/10.1002/ccr3.501
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