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Keywords:

  • translocation;
  • array comparative genomic hybridization;
  • copy number variation;
  • aniridia;
  • submucous cleft palate;
  • cardiac defects

Abstract

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed. © 2012 Wiley Periodicals, Inc.