A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

BACKGROUND: Interstitial duplications distal to 15q13 are very rare. CASE PRESENTATION: Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, b...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Meng, Zhe, Zhang, Lina, Luo, Xiangyang, Liu, Liping, Chen, Mengfan, Li, Xinwei, Zhao, Weiwei, Liang, Liyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710046/
https://www.ncbi.nlm.nih.gov/pubmed/26759605
http://dx.doi.org/10.1186/s13039-016-0214-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710046/
https://www.ncbi.nlm.nih.gov/pubmed/26759605
http://dx.doi.org/10.1186/s13039-016-0214-3

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