Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)-Reference-Cited by-同舟云学术

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

Published:2018-12-17 Issue: Volume:2018 Page:1-3
ISSN:2090-6501
Container-title:Case Reports in Endocrinology
language:en
Short-container-title:Case Reports in Endocrinology

Author:

Latrech Hanane¹^ORCID,Madar Houssein²,Gaouzi Ahmed²

Affiliation:

1. Department of Endocrinology, Mohammed VI Hospital, Medical School, University Mohamed First, 60 000 Oujda, Morocco

2. Department of Endocrinology Paediatrics, Medical School, Mohammed V University, Hôpital d’Enfants, 10 000 Rabat, Morocco

Abstract

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.

Publisher

Hindawi Limited

Subject

Endocrinology, Diabetes and Metabolism

Link

http://downloads.hindawi.com/journals/crie/2018/3796415.pdf

Reference18 articles.

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5. Turner syndrome: a cytogenetic and molecular study

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1. The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases;Chromosoma;2022-07-30

2. Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report;Molecular Cytogenetics;2020-11-13