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

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.