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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Vydáno v:Mol Med Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2017
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On-line přístup: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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