Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome
Authors:
- 24 February 2006
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (7) , 704-708
Abstract
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.Keywords
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