The authors declare that they have no conflict of interest.
Article first published online: 10 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 2, pages 352–359, February 2013
How to Cite
Bierhals, T., Maddukuri, S. B., Kutsche, K. and Girisha, K. M. (2013), Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature. Am. J. Med. Genet., 161: 352–359. doi: 10.1002/ajmg.a.35730
How to Cite this Article: Bierhals T, Maddukuri SB, Kutsche K, Girisha KM, 2013. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature. Am J Med Genet Part A 161A:352–359.
- Issue published online: 24 JAN 2013
- Article first published online: 10 JAN 2013
- Manuscript Accepted: 1 OCT 2012
- Manuscript Received: 2 JAN 2012
- Deutsche Forschungsgemeinschaft. Grant Number: KU 1240/6-1
- copy number variation;
- 17q12 duplication;
The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often presumed to be pathogenic and inherited ones from a healthy parent likely to be not relevant for the phenotype. However, it is difficult to draw such a conclusion for an inherited copy number variation not known to be a common variation. We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ∼1.4 Mb from his healthy father. Copy number variations in this chromosomal region are thought to be pathogenic and associated with various phenotypes including developmental delay, growth retardation, seizures, renal disease, and diabetes mellitus. We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 duplication. © 2013 Wiley Periodicals, Inc.