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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Luo, Aixiang, Cheng, Dehua, Yuan, Shimin, Li, Haiyu, Du, Juan, Zhang, Yang, Yang, Chuanchun, Lin, Ge, Zhang, Wenyong, Tan, Yue-Qiu
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5883343/
https://ncbi.nlm.nih.gov/pubmed/29636822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0371-7
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