How to cite this article: Páez MT, Yamamoto T, Hayashi K-i, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R. 2008. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits. Am J Med Genet Part A 146A:1158–1165.
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits†
Article first published online: 4 APR 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 9, pages 1158–1165, 1 May 2008
How to Cite
Páez, M. T., Yamamoto, T., Hayashi, K.-i., Yasuda, T., Harada, N., Matsumoto, N., Kurosawa, K., Furutani, Y., Asakawa, S., Shimizu, N. and Matsuoka, R. (2008), Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits. Am. J. Med. Genet., 146A: 1158–1165. doi: 10.1002/ajmg.a.32205
- Issue published online: 21 APR 2008
- Article first published online: 4 APR 2008
- Manuscript Accepted: 25 NOV 2007
- Manuscript Received: 23 AUG 2007
- International Research and Educational Institute for Integrated Medical Sciences
- Program for Promoting the Establishment of Strategic Research Centers
- Special Coordination Funds for Promoting Science and Technology
- Ministry of Education, Culture, Sports, Science and Technology (Japan)
- chromosome 8;
- congenital heart defect;
- atrial septal defect
Chromosomal 8p23 deletion syndrome is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1. Two patients with interstitial deletions of 8p23.1 were investigated; one patient showed moderate developmental delay and Ebstein anomaly, and the other showed mild delay and typical atrioventricular septum defect. The precise deletion sizes, 17 and 2.9 Mb, were determined by FISH analyses using BAC clones as probes. The latter deletion was the smallest deletion including GATA4 in the previously reported patients, and the critical regions and genes for clinical manifestation of 8p23 deletion syndrome, including facial anomalies, microcephaly, behavioral abnormality, and developmental delay, were discussed. © 2008 Wiley-Liss, Inc.