Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay

Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay

Abstract Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardation caused by chromosome microduplication/microdeletion. There were 10 affected indi...

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Bibliographic Details
Main Authors: Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang, Yuexin Yu
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Molecular Cytogenetics
Subjects:
4p duplication
8p deletion
Intellectual disability
Inherited
Single-nucleotide polymorphism
Online Access:https://doi.org/10.1186/s13039-021-00552-3

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