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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 20q13.12 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 disorders (MPD), myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML)1. The deletions are predominantly interstitial2.

Often other cytogenetic abnormalities are present such as del(5q), -7/del(7q), +8, del(18q), +21 and rearrangements of 13q. Due to the relatively small size of the deletion and the lack of banding features on chromosome 20, FISH is particularly useful in detecting this abnormality. The prognosis for MDS cases where del(20q) is the sole abnormality is good. However if secondary abnormalities are present, a poor outcome is indicated3. AML patients respond poorly to treatment and have reduced survival rates. The clinical outcome for MPD patients remains unchanged in the presence of the abnormality4.

The mechanism of leukaemogenesis associated with del(20q) is unknown, however, deletion of a tumour suppressor gene (TSG) is thought to cause the increased proliferation of the cancer cells4. Using RT-PCR analysis, Bench et al identified potential target genes in the region of overlap between the AML/MDS and MPD CDR at band 20q12. Five genes were expressed in both bone marrow and CD34 positive cells. Of the three previously identified genes, L(3)MBT regulates chromatin structure during mitosis, SFRS6 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 control5,6,7.

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. Březinová et al., 2005:160(2):188-192

2. MacKinnon et al., Cancer Genet. 2011 Mar;204(3):153-61

3. Liu et al., Cancer Genet Cytogenet. 2006 Nov;171(1):9-16

4. Bilhou-Nabera, del(20q) in myeloid malignancies. Atlas Genet Cytogenet Oncol Haematol 2000

5. Bench et al., Oncogene 2000;19(34):3902-13

6. Li J et al., PNAS 2004;101:7341-67.

7. Wang et al., Genomics 1999;59:275-81

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.