Sharon L. Wenger and Paul D. Grossfeld, these authors contributed equally to the manuscript.
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome†
Version of Record online: 24 FEB 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 7, pages 704–708, 1 April 2006
How to Cite
Wenger, S. L., Grossfeld, P. D., Siu, B. L., Coad, J. E., Keller, F. G. and Hummel, M. (2006), Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. Am. J. Med. Genet., 140A: 704–708. doi: 10.1002/ajmg.a.31146
- Issue online: 22 MAR 2006
- Version of Record online: 24 FEB 2006
- Manuscript Accepted: 29 DEC 2005
- Manuscript Received: 23 AUG 2005
- Jacobsen syndrome;
- contiguous gene syndrome;
- congenital thrombocytopenia;
The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley-Liss, Inc.