How to Cite this Article: Avela K, Aktan-Collan K, Horelli-Kuitunen N, Knuutila S, Somer M. 2011. A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene. Am J Med Genet Part A 155:875–879.
A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene†
Version of Record online: 15 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 4, pages 875–879, April 2011
How to Cite
Avela, K., Aktan-Collan, K., Horelli-Kuitunen, N., Knuutila, S. and Somer, M. (2011), A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene. Am. J. Med. Genet., 155: 875–879. doi: 10.1002/ajmg.a.33944
- Issue online: 24 MAR 2011
- Version of Record online: 15 MAR 2011
- Manuscript Accepted: 10 DEC 2010
- Manuscript Received: 22 JAN 2010
- chromosome 17;
- chromosome aberrations;
- microarray comparative genomic hybridization;
- mental retardation;
- partial immunoglobulin deficiency
Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009]. Here, we report an additional patient with a microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 gene, that was inserted into the long arm of chromosome 4. The patient had psychomotor and growth retardation, dysmorphic features, small ventricular septal defect (VSD), and immunoglobulin abnormality. Only subtle abnormalities in brain MRI scan were seen. Interestingly, the facial features of our patient closely resemble those previously reported in 17p trisomy patients. © 2011 Wiley-Liss, Inc.