Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this...

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Detalles Bibliográficos
Autores principales: Latrech, Hanane, Madar, Houssein, Gaouzi, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311845/
https://www.ncbi.nlm.nih.gov/pubmed/30647978
http://dx.doi.org/10.1155/2018/3796415
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author Latrech, Hanane
Madar, Houssein
Gaouzi, Ahmed
author_facet Latrech, Hanane
Madar, Houssein
Gaouzi, Ahmed
author_sort Latrech, Hanane
collection PubMed
description Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.
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spelling pubmed-63118452019-01-15 Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) Latrech, Hanane Madar, Houssein Gaouzi, Ahmed Case Rep Endocrinol Case Report Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation. Hindawi 2018-12-17 /pmc/articles/PMC6311845/ /pubmed/30647978 http://dx.doi.org/10.1155/2018/3796415 Text en Copyright © 2018 Hanane Latrech et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Latrech, Hanane
Madar, Houssein
Gaouzi, Ahmed
Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title_full Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title_fullStr Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title_full_unstemmed Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title_short Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)
title_sort combination of gonadal dysgenesis and monosomy x with a novo translocation (13,14)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311845/
https://www.ncbi.nlm.nih.gov/pubmed/30647978
http://dx.doi.org/10.1155/2018/3796415
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