XL del(20q) plus consists of an orange-labeled probe hybridizing to the PTPRT gene region at 20q12 and a green-labeled probe hybridizing to the MYBL2 gene region at 20q12-13.1.

Probe maps for selected products have been updated. These updates ensure a consistent presentation of all gaps larger than 10 kb including adjustments to markers, genes, and related elements. This update does not affect the device characteristics or product composition. Please refer to the list to find out which products now include updated probe maps.

Probe map details are based on UCSC Genome Browser GRCh37/hg19, with map components not to scale.

Myelodysplastic syndromes (MDS) are a group of hematopoietic stem cell disorders associated with ineffective hematopoiesis and peripheral blood cytopenias. MDS patients have a significant risk of progression to acute myeloid leukemia. In about 50% of de novo MDS, cytogentic 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).

Del(20q) is a recurrent but rare aberration and is present in about 3-7% of MDS patients. The majority of cases have an interstitial deletion which is flanked by the PTPRT gene and includes the MYBL2 gene. Sole del(20q) is associated with a more favorable outcome.

Clinical Applications

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

XL del(20q) plus hybridized to lymphocytes. One normal interphase is shown.

• Bench et al (2000) Oncogene 19:3902-3913
• Saunders et al (2005) Cancer Genet Cytogen 156:154-157
• Bacher et al (2013) Brit J Heamtol 164:822-833