Article
Interstitial 11q24 deletion: a new case and review of the literature.
Journal of applied genetics - 1 Aug 2016
Tassano Elisa, Janis Sara, Canepa Alberto, Zanotto Elisabetta, Torello Corrado, Gimelli Giorgio, Cuoco Cristina
Abstract excerpt
We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping...
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