How to Cite this Article: Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. 2013. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet Part A 161A:822–828
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype†
Article first published online: 12 MAR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 4, pages 822–828, April 2013
How to Cite
Burnside, R. D., Pappas, J. G., Sacharow, S., Applegate, C., Hamosh, A., Gadi, I. K., Jaswaney, V., Keitges, E., Phillips, K. K., Potluri, V. R., Risheg, H., Smith, J. L., Tepperberg, J. H., Schwartz, S. and Papenhausen, P. (2013), Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am. J. Med. Genet., 161: 822–828. doi: 10.1002/ajmg.a.35699
- Issue published online: 19 MAR 2013
- Article first published online: 12 MAR 2013
- Manuscript Accepted: 1 SEP 2012
- Manuscript Received: 6 FEB 2012
- molecular cytogenetics;
- SNP microarray;
- terminal deletion;
Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental duplications at 8p23.1, flanking the gene, GATA4. Haploinsufficiency of this gene has been implicated in cardiac defects seen in numerous individuals with terminal 8p deletion. Current microarray technologies allow for the precise elucidation of the size and gene content of the deleted region. We present three individuals with isolated terminal deletion of 8p distal to the segmental duplication telomeric to GATA4. These individuals present with a relatively mild and nonspecific phenotype including mildly dysmorphic features, developmental delay, speech delay, and early behavior issues. © 2013 Wiley Periodicals, Inc.