Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

BACKGROUND: Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, including e...

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Detalles Bibliográficos
Autores principales: Li, Haiyu, Du, Juan, Li, Wen, Cheng, Dehua, He, Wenbin, Yi, Duo, Xiong, Bo, Yuan, Shimin, Tu, Chaofeng, Meng, Lanlan, Luo, Aixiang, Lin, Ge, Lu, Guangxiu, Tan, Yue-Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799895/
https://www.ncbi.nlm.nih.gov/pubmed/29441129
http://dx.doi.org/10.1186/s13039-018-0365-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799895/
https://www.ncbi.nlm.nih.gov/pubmed/29441129
http://dx.doi.org/10.1186/s13039-018-0365-5

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