How to Cite this Article: Gunnarsson C, Foyn Bruun C. 2010. Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. Am J Med Genet Part A 152A:3110–3114.
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1†
Article first published online: 16 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3110–3114, December 2010
How to Cite
Gunnarsson, C. and Foyn Bruun, C. (2010), Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1. Am. J. Med. Genet., 152A: 3110–3114. doi: 10.1002/ajmg.a.33353
- Issue published online: 23 NOV 2010
- Article first published online: 16 NOV 2010
- Manuscript Accepted: 22 DEC 2009
- Manuscript Received: 18 MAY 2009
- County Council of Östergötland
- 3p deletion syndrome;
- interstitial deletion;
- SNP array
Distal chromosome 3p deletions (3p- syndrome) are associated with various developmental defects. The majority of cases have a terminal deletion of the short arm of chromosome 3 with loss of either the maternal or the paternal copy. A girl with an interstitial molecularly characterized 1.6 Mb deletion in cytoband 3p25.3-26.1 of the paternal chromosome 3 is presented. To our knowledge, she possesses the smallest deletion that has ever been reported for a patient with a clinical phenotype in accordance with the 3p- syndrome. The boundaries of the deletion lies within nearly all previously reported terminal deletions causing this syndrome. Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features. © 2010 Wiley-Liss, Inc.