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Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

BACKGROUND: 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 dupli...

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Detalles Bibliográficos
Autores principales: Luo, Aixiang, Cheng, Dehua, Yuan, Shimin, Li, Haiyu, Du, Juan, Zhang, Yang, Yang, Chuanchun, Lin, Ge, Zhang, Wenyong, Tan, Yue-Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883343/
https://www.ncbi.nlm.nih.gov/pubmed/29636822
http://dx.doi.org/10.1186/s13039-018-0371-7