Wenger Sharon L, Grossfeld Paul D, Siu Benjamin L, Coad James E, Keller Frank G, Hummel Marybeth
Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia 26506-9203, USA.
Am J Med Genet A. 2006 Apr 1;140(7):704-8. doi: 10.1002/ajmg.a.31146.
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.
11q末端缺失障碍或雅各布森综合征是一种连续性基因障碍。其特征为精神运动发育迟缓、心脏缺陷、血液系统异常（巴黎-特鲁索综合征）和颅面畸形。我们报告了一名女性患者，她有一个约10 Mb的间质性缺失，具有许多雅各布森综合征的特征：先天性心脏缺陷、畸形特征、发育迟缓以及巴黎-特鲁索综合征。患者的核型为46,XX,del(11)(q24.1q24.3)。使用针对11q远端的FISH探针证实了间质性缺失，并通过微阵列分析对断点进行了特征描述。这是首例具有雅各布森综合征临床特征患者的分子特征化间质性缺失。该缺失包括FLI-1，但不包括JAM-3，这将有助于确定该综合征所涉及的关键基因。
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