De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

BACKGROUND: Triplication is a rare chromosomal anomaly. We identified a de novo triplication of 11q12.3 in a patient with developmental delay, distinctive facial features, and others. In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potent...

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Detalles Bibliográficos
Autores principales: Yamamoto, Toshiyuki, Matsuo, Mari, Shimada, Shino, Sangu, Noriko, Shimojima, Keiko, Aso, Seijiro, Saito, Kayoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626894/
https://www.ncbi.nlm.nih.gov/pubmed/23552394
http://dx.doi.org/10.1186/1755-8166-6-15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626894/
https://www.ncbi.nlm.nih.gov/pubmed/23552394
http://dx.doi.org/10.1186/1755-8166-6-15

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