XL 5q31/5q33 consists of an orange-labeled probe hybridizing to the EGR1 gene region at 5q31.2 and a green-labeled probe hybridizing to the RPS14 gene region at 5q32-33.1.

Probe maps for selected products have been updated. These updates ensure a consistent presentation of all gaps larger than 10 kb including adjustments to markers, genes, and related elements. This update does not affect the device characteristics or product composition. Please refer to the list to find out which products now include updated probe maps.

Probe map details are based on UCSC Genome Browser GRCh37/hg19, with map components not to scale.

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).

The 5q syndrome is defined as a 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 contains RPS14 which has been identified as a causal gene for the 5q syndrome.

Clinical Applications

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

XL 5q31/5q33 hybridized to bone marrow cells. Both metaphase and interphase show a signal pattern of one orange and two green signals indicating a deletion in 5q31.

• Horrigan et al (2000) Blood 95:2372-2377
• Wei et al (2009) Proc Natl Acad Sci USA 106:12974-12979
• Boultwood et al (2010) Blood 16:5803-5811