How to cite this article: Wang J-C, Fisker T, Dang L, Teshima I, Nowaczyk MJM. 2009. 4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations. Am J Med Genet Part A 149A:2274–2279.
4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2274–2279, October 2009
How to Cite
Wang, J.-C., Fisker, T., Dang, L., Teshima, I. and Nowaczyk, M. J.M. (2009), 4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations. Am. J. Med. Genet., 149A: 2274–2279. doi: 10.1002/ajmg.a.33020
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 21 JUN 2009
- Manuscript Received: 21 APR 2009
- chromosome 4;
- Hirschsprung disease
Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1–q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small, low-set and squared-off ears. Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1–q32.2 appeared to be distinct from duplications of 4q31-qter. © 2009 Wiley-Liss, Inc.