How to Cite this Article: Preiksaitiene E, Kasnauskiene J, Ciuladaite Z, Tumiene B, Patsalis PC, Kučinskas V. 2012. Clinical and molecular characterization of a second case of 7p22.1 microduplication. Am J Med Genet Part A. 158A:1200–1203.
Clinical and molecular characterization of a second case of 7p22.1 microduplication†
Article first published online: 11 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1200–1203, May 2012
How to Cite
Preiksaitiene, E., Kasnauskiene, J., Ciuladaite, Z., Tumiene, B., Patsalis, P. C. and Kučinskas, V. (2012), Clinical and molecular characterization of a second case of 7p22.1 microduplication. Am. J. Med. Genet., 158A: 1200–1203. doi: 10.1002/ajmg.a.35300
- Issue published online: 18 APR 2012
- Article first published online: 11 APR 2012
- Manuscript Accepted: 29 JAN 2012
- Manuscript Received: 29 NOV 2011
- European Union's Seventh Framework Programme [FP7/2007–2013]. Grant Number: 223692
- 7p22.1 microduplication syndrome;
- developmental delay;
- craniofacial abnormalities;
- skeletal abnormalities;
- ACTB gene
The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7 Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even smaller 7p22.1 de novo microduplication, 1 Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1. © 2012 Wiley Periodicals, Inc.