XL del(5)(q31) consists of a green-labeled probe hybridizing to a region at 5p15.2-15.3 and an orange-labeled probe hybridizing to the EGR1 gene region at 5q31.2.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

Myelodysplastic syndromes (MDS) and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008), cytogenetic aberrations are observed in about 50% of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3,3).

5q syndrome is defined as primary MDS with del(5q) as the sole karyotypic abnormality. Two different critical regions are described, one is located at 5q31 and contains the EGR1 and CDC25C genes. A more distal region at 5q32-q33 containing RPS14 has been identified as a causal region for 5q syndrome.

Clinical Applications

• Myelodysplastic Syndrome (MDS)
• Acute Myelogenous Leukemia (AML)

XL Del(5)(q31) hybridized to lymphocytes. One normal interphase and metaphase are shown.

• Horrigan et al (2000) Blood 95:2372-2377
• Ebert et al (2008) Nature 451:335-339
• Mallo et al (2008) Heamatologica 93:1001-1007