1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite commo...

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Detalles Bibliográficos
Autores principales: Hu, Ping, Wang, Yan, Meng, Lu-lu, Qin, Ling, Ma, Ding-yuan, Yi, Long, Xu, Zheng-feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766032/
https://www.ncbi.nlm.nih.gov/pubmed/23915434
http://dx.doi.org/10.1186/1755-8166-6-30

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766032/
https://www.ncbi.nlm.nih.gov/pubmed/23915434
http://dx.doi.org/10.1186/1755-8166-6-30

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