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Del(20q) Deletion

Catalogue Numbers
LPH 020-S (5 tests)
LPH 020 (10 tests)

Probe Specification

  • 20q12, Red
  • 20q13.12, Green

The 20q12 probe, labelled in red, covers a 331kb region within the PTPRT gene and includes the D20S108 marker. The 20q13.1 probes, labelled in green (141kb and 174kb), cover the MYBL2 gene and includes the D20S150 marker.

Probe Information

Deletions of the long arm of chromosome 20 are a common chromosomal abnormality associated with myeloid malignancies, in particular myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML)1.

Deletion of the long arm of chromosome 20 [del(20q)] is observed in 10% of patients with polycythemia vera (PV) and in other MPNs2. Additionally, it can be seen in 4% of MDS cases and in 1-2% of AML cases2. The prognosis for MDS where del(20q) is the sole abnormality is good; however, the presence of secondary abnormalities may be indicative of disease progression3.

FISH is particularly useful in confirming the presence and extent of the abnormality in poor cytogenetic sample preparations.

Potential target genes have been investigated in the region of overlap between the AML/MDS and MPD common deleted region at band 20q12. Five genes were expressed in both bone marrow and CD34+ cells. Of these genes, three were previously identified: L(3)MBTL1 regulates chromatin structure during mitosis; SRSF6 encodes a serine rich protein important to regulation of alternative splicing of mRNA; and MYBL2, a member of the MYB transcription factor family, is involved in cell cycle control2,4,5.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience


  1. Brězinová et al., 2005:160(2):188-192
  2. Bench et al., Oncogene 2000;19(34):3902-13
  3. Liu et al., Cancer Genet Cytogenet. 2006 Nov;171(1):9-16
  4. Li J et al., PNAS 2004;101:7341-6
  5. Wang et al., Genomics 1999;59:275-81
  6. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  7. Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
  8. Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.

Microscope Images

Del 20q Deletion magnified
Area of Interest*


This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.