XL 5q31/5q33/5p15

Deletion Probe

Order Number
D-5081-100-TC
Package Size
100 µl (10 Tests)
Labels
   
Chromosome
5

Description

XL 5q31/5q33/5p15

XL 5q31/5q33/5p15 consists of an aqua-labeled probe hybridizing to a region at 5p15.2-15.3, 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 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.

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Clinical Details

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 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 containing RPS14 has been identified as a causal region for 5q syndrome.

Clinical Applications

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

XL 5q31/5q33/5p15

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

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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.

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Literature

  • 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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