Article
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Molecular medicine reports - 1 Dec 2017
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
Abstract excerpt
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 with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism,...
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