How to Cite this Article: Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kučinskienė ZA, Hettinger JA, Sismani C, Patsalis PC, Kučinskas V. 2011. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. Am J Med Genet Part A 155:2501–2507.
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome†
Version of Record online: 16 AUG 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 10, pages 2501–2507, October 2011
How to Cite
Kasnauskiene, J., Cimbalistiene, L., Ciuladaite, Z., Preiksaitiene, E., Kučinskienė, Z. A., Hettinger, J. A., Sismani, C., Patsalis, P. C. and Kučinskas, V. (2011), De novo 5q35.5 duplication with clinical presentation of Sotos syndrome. Am. J. Med. Genet., 155: 2501–2507. doi: 10.1002/ajmg.a.34179
- Issue online: 20 SEP 2011
- Version of Record online: 16 AUG 2011
- Manuscript Accepted: 23 JUN 2011
- Manuscript Received: 3 DEC 2010
- European Community's Seventh Framework Programme. Grant Number: 223692
- Sotos syndrome;
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication. The duplication is located right downstream from the NSD1 gene, a region which appears critical for the expression of the gene as regulatory elements might be disrupted or the expression of a not amplified critical gene might be otherwise affected by the duplicated region. Thus, in the process of evaluating identified CNVs attention should be drawn to the possible influence of chromosomal rearrangement on distant genes, which could add additional diversity to genomic disorders. Our case demonstrates that evaluation of the size of chromosomal alteration and gene content are not sufficient for assessment of CNV's pathogenicity and the context of adjacent genes should be considered. © 2011 Wiley-Liss, Inc.