7q11.23 Microduplication: a recognizable phenotype
Article first published online: 8 APR 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 2, pages 155–161, February 2013
How to Cite
Dixit, A., McKee, S., Mansour, S., Mehta, S., Tanteles, G., Anastasiadou, V., Patsalis, P., Martin, K., McCullough, S., Suri, M. and Sarkar, A. (2013), 7q11.23 Microduplication: a recognizable phenotype. Clinical Genetics, 83: 155–161. doi: 10.1111/j.1399-0004.2012.01862.x
- Issue published online: 7 JAN 2013
- Article first published online: 8 APR 2012
- Accepted manuscript online: 27 FEB 2012 09:09AM EST
- Received 27 October 2011; revised and accepted for publication 21 February 2012
- autism spectrum disorder;
- 7q11.23 microduplication;
- speech delay;
- Williams-Beuren critical region
Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a recognizable phenotype.
Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype.