Neonatal detection of 5p13.2 duplication and delineation of the phenotype

Authors


  • How to Cite this Article: Carrascosa Romero MC, García Hoyo R, Calvente M, Baquero Cano M, González Castillo L, Suela J. 2012. Neonatal detection of 5p13.2 duplication and delineation of the phenotype. Am J Med Genet Part A 158A:877–881.

  • Conflicts of interest: none to declare.

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.

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