The authors declare that there is no conflict of interest.
Version of Record online: 14 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 218–224, January 2013
How to Cite
Doelken, S. C., Seeger, K., Hundsdoerfer, P., Weber-Ferro, W., Klopocki, E. and Graul-Neumann, L. (2013), Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci. Am. J. Med. Genet., 161: 218–224. doi: 10.1002/ajmg.a.35695
How to Cite this Article: Doelken SC, Seeger K, Hundsdoerfer P, Weber-Ferro W, Klopocki E, Graul-Neumann L. 2012. Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci. Am J Med Genet Part A 161A:218–224.
- Issue online: 22 DEC 2012
- Version of Record online: 14 DEC 2012
- Manuscript Accepted: 9 SEP 2012
- Manuscript Received: 6 JUN 2012
- intellectual disability;
- developmental delay
Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as a susceptibility locus for cognitive deficits, congenital diaphragmatic hernia (CDH), and Diamond–Blackfan anaemia (DBA). We describe two patients with 15q25.2 deletion, one with the more distal deletion and the other with a deletion overlapping both the distal and proximal 15q25.2 deletions and compare them to the 18 so far reported patients with 15q25.2 deletions. We provide a characterization of the 15q25.2 microdeletions and contribute to the genotype–phenotype delineation for these two novel microdeletion syndromes. © 2012 Wiley Periodicals, Inc.