Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

BACKGROUND: Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function. During chromosome analysis, we identified a reciprocal translocation between chromosomes 1p and 12q, t(1; 12)(p...

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Detalles Bibliográficos
Autores principales: Liao, Hsiao-Mei, Fang, Jye-Siung, Chen, Yann-Jang, Wu, Kuang-Lun, Lee, Kuei-Fang, Chen, Chia-Hsiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125236/
https://www.ncbi.nlm.nih.gov/pubmed/21595979
http://dx.doi.org/10.1186/1471-2350-12-70

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125236/
https://www.ncbi.nlm.nih.gov/pubmed/21595979
http://dx.doi.org/10.1186/1471-2350-12-70

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