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Keywords:

  • array-CGH;
  • duplication 5p13.2;
  • renal agenesis;
  • arachnodactyly;
  • corpus callosum dysgenesis;
  • cerebral dysgenesis;
  • hypotonia;
  • cortical thumb;
  • glutamate receptor;
  • NIPBL

Abstract

A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. © 2012 Wiley Periodicals, Inc.