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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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 |
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