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Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

We report here a very rare case of de novo inversion-duplication chromosomal abnormality with a pure 3qter duplication syndrome. Interestingly, the 3q duplication includes an overlap of the syndromes critical region. Although there have only been 9 cases of this syndrome reported in the past, our pa...

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Detalles Bibliográficos
Autores principales: Imataka, George, Watabe, Yoshiyuki, Kajitani, Sayuri, Watanabe, Shun, Ichikawa, Junko, Drago, Fabrizio, Suzumura, Hiroshi, Yoshihara, Shigemi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450752/
https://www.ncbi.nlm.nih.gov/pubmed/28587431
http://dx.doi.org/10.3892/etm.2017.4416