Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10-year-old boy w...

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Detalhes bibliográficos
Publicado no:Mol Med Rep
Main Authors: Papadopoulou, Zoe, Papoulidis, Ioannis, Sifakis, Stavros, Markopoulos, Georgios, Vetro, Annalisa, Vlaikou, Angeliki-Maria, Ziegler, Monica, Liehr, Thomas, Thomaidis, Loretta, Zuffardi, Orsetta, Syrrou, Maria, George, Kitsos, Manolakos, Emmanouil
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5779959/
https://ncbi.nlm.nih.gov/pubmed/29039589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2017.7760
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