A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development

We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq. This case emphasizes duplicated region Yp11.2→Yq11.223 with partial deletion of Yq11.223→Yqter most probably perturbed the sex differentiation and...

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Autores principales: Liu, Qing‐Song, Zhu, Xing‐Chun, Ma, Qiang, He, Cheng, Shao, Jian‐Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132170/
https://www.ncbi.nlm.nih.gov/pubmed/30214739
http://dx.doi.org/10.1002/ccr3.1613
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author Liu, Qing‐Song
Zhu, Xing‐Chun
Ma, Qiang
He, Cheng
Shao, Jian‐Lan
author_facet Liu, Qing‐Song
Zhu, Xing‐Chun
Ma, Qiang
He, Cheng
Shao, Jian‐Lan
author_sort Liu, Qing‐Song
collection PubMed
description We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq. This case emphasizes duplicated region Yp11.2→Yq11.223 with partial deletion of Yq11.223→Yqter most probably perturbed the sex differentiation and led to female phenotype.
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spelling pubmed-61321702018-09-13 A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development Liu, Qing‐Song Zhu, Xing‐Chun Ma, Qiang He, Cheng Shao, Jian‐Lan Clin Case Rep Case Reports We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq. This case emphasizes duplicated region Yp11.2→Yq11.223 with partial deletion of Yq11.223→Yqter most probably perturbed the sex differentiation and led to female phenotype. John Wiley and Sons Inc. 2018-07-07 /pmc/articles/PMC6132170/ /pubmed/30214739 http://dx.doi.org/10.1002/ccr3.1613 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Liu, Qing‐Song
Zhu, Xing‐Chun
Ma, Qiang
He, Cheng
Shao, Jian‐Lan
A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title_full A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title_fullStr A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title_full_unstemmed A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title_short A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development
title_sort de novo derivative y chromosome (partial yq deletion and partial duplication of yp and yq) in a female with disorders of sex development
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132170/
https://www.ncbi.nlm.nih.gov/pubmed/30214739
http://dx.doi.org/10.1002/ccr3.1613
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