XL 5q31/5q33/5p15

Deletion Probe

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Package Size
100 µl


XL 5q31/5q33/5p15

The XL 5q31/5q33/5p15 locus-specific probe detects deletions in the long arm of chromosome 5. The orange labeled probe hybridizes to a specific region at 5q31 including the EGR1 gene. The green labeled probe hybridizes to 5q33 and includes the RPS14 gene. A blue (aqua) labeled probe hybridizes to 5p15 as a control.

Clinical Details

The myelodysplastic syndromes 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 myelodysplastic syndrome (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 the 5q syndrome.

Clinical Applications

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


XL 5q31/5q33/5p15

XL 5q31/5q33/5p15 hybridized to lymphocytes. One normal metaphase is shown.

Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G), two orange (2O) and two blue (2B) signals.

Expected Pattern 2

Aberrant Cell (typical results):
One green (1G), one orange (1O), and two blue (2B) signals, indicating a large 5q deletion including 5q31 and 5q33.

Expected Pattern 3

Aberrant Cell (typical results):
Two green (2G), one orange (1O), and two blue (2B) signals, indicating a deletion in 5q31. One green (1G), two orange (2O), and two blue (2B) signals, indicating a deletion in 5q33 only.

Expected Pattern 4

Aberrant Cell (typical results):
One green (1G), one orange (1O), and one blue (1B) signal indicating a monosomy 5.


  • Horrigan et al (2009) Blood 95:2372-2377
  • Wei et al (2009) PNAS 106:12974-12979
  • Boultwood et al (2010) Blood 16:5803-5811


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