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

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

Abstract 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-q...

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Bibliographic Details
Main Authors: Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang, Yue-Qiu Tan
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Molecular Cytogenetics
Subjects:
Pure 1q43-q44 deletion/duplication
Insertional translocation
Congenital anomaly
Whole-genome sequencing
Online Access:http://link.springer.com/article/10.1186/s13039-018-0371-7

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