Interstitial 11q24 deletion: a new case and review of the literature

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• 作者：Elisa Tassano ; Sara Janis ; Alberto Canepa…
• 刊名：Journal of Applied Genetics
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：57
• 期：3
• 页码：357-362
• 全文大小：1,038 KB
• 刊物主题：Life Sciences, general; Animal Genetics and Genomics; Human Genetics; Microbial Genetics and Genomics; Plant Genetics & Genomics;
• 出版者：Springer Berlin Heidelberg
• ISSN：2190-3883
• 卷排序：57

文摘

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 deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.KeywordsArray-CGH11q24 deletionGenotype-phenotype correlation