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
Descripción
Sumario: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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