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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Detalles Bibliográficos
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
Descripción
Sumario: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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