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.
Article first published online: 9 MAR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 4, pages 877–881, April 2012
How to Cite
Romero, M. C. C., Hoyo, R. G., Calvente, M., Cano, M. B., Castillo, L. G. and Suela, J. (2012), Neonatal detection of 5p13.2 duplication and delineation of the phenotype. Am. J. Med. Genet., 158A: 877–881. doi: 10.1002/ajmg.a.35237
Conflicts of interest: none to declare.
- Issue published online: 23 MAR 2012
- Article first published online: 9 MAR 2012
- Manuscript Accepted: 27 DEC 2011
- Manuscript Received: 6 MAY 2011
- duplication 5p13.2;
- renal agenesis;
- corpus callosum dysgenesis;
- cerebral dysgenesis;
- cortical thumb;
- glutamate receptor;
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.