XL 20q12/20qter plus

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)


XL 20q12/20qter plus

XL 20q12/20qter plus consists of an orange-labeled probe hybridizing to the PTPRT gene region at 20q12 and a green-labeled probe hybridizing to a region at 20q13.3.

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) are a group of hematopoietic stem cell disorders associated with ineffective hematopoiesis and peripheral blood cytopenias. Approximately 40% of MDS cases are progressing to acute myeloid leukemia. In about 50% of de novo MDS, cytogenetic aberrations are observed; deletions are predominant, translocations are rare. Recurrent abnormalities are del(5q), monsomy 7, del(7q), del(20q), del(17p) and del(11q).

A chromosome 20q deletion is seen in about 2% of MDS cases. Patients with a sole del(20q) have a favourable outcome compared to patients with additional abnormalities such as del(5q), del(7q), monosomy 7 and trisomy 8. The majority of patients with del(20q) have an interstitial deletion between 20q11.2 and 20q13.3. In rare cases, the 20q deletion can occur as an isoderivative chromosome ider(20q) with loss of the p-arm of chromosome 20 and partial trisomy of the remaining regions on the q-arm.

Clinical Applications

  • Myelodysplastic Syndrome (MDS)
  • Acute Myelogenous Leukemia (AML)
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XL 20q12/20qter plus

XL 20q12/20qter plus hybridized to lymphocytes. One normal interphase and one partial metaphase are shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

Expected Pattern 3

Aberrant Cell (typical results):
Three green (3G) and one orange (1O) signal resulting from the presence of ider(20q).

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  • Kurtin et al (1996) Am J Clin Pathol 106:680-688
  • Douet-Gilbert et al (2008) Br J Haematol 143:716-720
  • Bacher et al (2014) Br J Haematol 164:822-833