11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

BACKGROUND: We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her maternal fam...

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Detalles Bibliográficos
Autores principales: Zhang, Qinxin, Wang, Yan, Zhou, Jing, Zhou, Ran, Liu, An, Meng, Lulu, Ji, Xiuqing, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568374/
https://www.ncbi.nlm.nih.gov/pubmed/37475652
http://dx.doi.org/10.1002/mgg3.2248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568374/
https://www.ncbi.nlm.nih.gov/pubmed/37475652
http://dx.doi.org/10.1002/mgg3.2248

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