Cryptic deletion of EGR1 in association with a novel balanced t(5;22)(q31;q11.2) in a patient with myelodysplastic syndrome

被引：3

作者：

Hoffman, Matthew W.

Janney, Stephen ^{[4
]}

Batanian, Jacqueline R. ^{[1
,2
,3
]}

机构：

[1] St Louis Univ, Sch Med, Dept Pediat, St Louis, MO 63104 USA

[2] St Louis Univ, Sch Med, Dept Pathol, St Louis, MO 63104 USA

[3] SSM Cardinal Glennon Childrens Med Ctr, Mol Cytogenet Lab, St Louis, MO 63104 USA

[4] St Marys Hlth Ctr, St Louis, MO 63117 USA

来源：

CANCER GENETICS AND CYTOGENETICS | 2009年 / 191卷 / 02期

关键词：

CHROMOSOME; GENE; 5Q;

D O I：

10.1016/j.cancergencyto.2009.02.008

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Loss of chromosome 5 or deletion of 5q is commonly seen in patients with myelodysplastic syndrome (MDS). Loss of EGR1, located on 5q31, has been postulated as contributing to the pathology of MDS in patients with -5/del(5q). We report on the first case of a patient with a novel apparent balanced translocation between chromosomes 5 and 22 at breakpoints 5q31 and 22q11.2. Fluorescence in situ hybridization using a probe of EGR1 detected a cryptic deletion masked by the translocation. (C) 2009 Elsevier Inc. All rights reserved.

引用

页码：106 / 108

页数：3

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