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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hao, Dongmei, Li, Yajuan, Chen, Lisha, Wang, Xiliang, Wang, Mengxing, Yu, Yuexin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268195/
https://www.ncbi.nlm.nih.gov/pubmed/34238319
http://dx.doi.org/10.1186/s13039-021-00552-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268195/
https://www.ncbi.nlm.nih.gov/pubmed/34238319
http://dx.doi.org/10.1186/s13039-021-00552-3

Ejemplares similares