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

Elisa Tassano, Sara Janis, Alberto Canepa, Elisabetta Zanotto, Corrado Torello, Giorgio Gimelli, Cristina Cuoco

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalJournal of Applied Genetics
DOIs
Publication statusAccepted/In press - Mar 28 2016

Keywords

  • 11q24 deletion
  • Array-CGH
  • Genotype-phenotype correlation

ASJC Scopus subject areas

  • Genetics

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