A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

BACKGROUD: Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia....

Descripción completa

Detalles Bibliográficos
Autores principales: Yuan, Haiming, Meng, Zhe, Liu, Liping, Deng, Xiaoyan, Hu, Xizi, 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/PMC4970238/
https://www.ncbi.nlm.nih.gov/pubmed/27486481
http://dx.doi.org/10.1186/s13039-016-0268-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970238/
https://www.ncbi.nlm.nih.gov/pubmed/27486481
http://dx.doi.org/10.1186/s13039-016-0268-2

Ejemplares similares