Chad R. Haldeman-Englert and Kimberly A. Chapman contributed equally to this work.
Article first published online: 23 DEC 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 1, pages 196–202, January 2010
How to Cite
Haldeman-Englert, C. R., Chapman, K. A., Kruger, H., Geiger, E. A., McDonald-McGinn, D. M., Rappaport, E., Zackai, E. H., Spinner, N. B. and Shaikh, T. H. (2010), A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am. J. Med. Genet., 152A: 196–202. doi: 10.1002/ajmg.a.33176
How to Cite this Article: Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH. 2010. A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet Part A 152A:196–202.
- Issue published online: 23 DEC 2009
- Article first published online: 23 DEC 2009
- Manuscript Accepted: 4 OCT 2009
- Manuscript Received: 14 JAN 2009
- NIH. Grant Number: GM081519
- University of Pennsylvania. Grant Number: 5-T32-GM-008638-11
- complex chromosome rearrangement;
- pervasive developmental disorder-not otherwise specified
We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1–q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes. © 2009 Wiley-Liss, Inc.