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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Luo, Aixiang, Cheng, Dehua, Yuan, Shimin, Li, Haiyu, Du, Juan, Zhang, Yang, Yang, Chuanchun, Lin, Ge, Zhang, Wenyong, Tan, Yue-Qiu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Case Report
Accès en ligne: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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