Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family

BACKGROUND: Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China...

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Detalles Bibliográficos
Autores principales: Kaihui, Zhang, Yan, Huang, Rui, Dong, Yali, Yang, Ying, Wang, Haiyan, Zhang, Yufeng, Zhang, Zhongtao, Gai, Yi, Liu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819188/
https://www.ncbi.nlm.nih.gov/pubmed/29467824
http://dx.doi.org/10.1186/s13039-017-0349-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819188/
https://www.ncbi.nlm.nih.gov/pubmed/29467824
http://dx.doi.org/10.1186/s13039-017-0349-x

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