Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

11qter trisomy is rare, mostly occurs in combination with partial monosomy of a terminal segment of another chromosome due to unbalanced segregation of parental translocations. Pure 11qter trisomy is rarer, only five cases have so far been reported. Here we report a family with all four siblings aff...

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Detalles Bibliográficos
Autores principales: Chen, Rongyu, Li, Chuan, Xie, Bobo, Wang, Jin, Fan, Xin, Luo, Jingsi, Hu, Xuyun, Chen, Shaoke, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314806/
https://www.ncbi.nlm.nih.gov/pubmed/25648949
http://dx.doi.org/10.1186/s13039-014-0101-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314806/
https://www.ncbi.nlm.nih.gov/pubmed/25648949
http://dx.doi.org/10.1186/s13039-014-0101-8

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