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

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 individuals w...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Mol Cytogenet
Main Authors: Hao, Dongmei, Li, Yajuan, Chen, Lisha, Wang, Xiliang, Wang, Mengxing, Yu, Yuexin
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2021
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC8268195/
https://ncbi.nlm.nih.gov/pubmed/34238319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00552-3
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