XL 20q12/20qter/8cen plus consists of an aqua-labeled probe hybridizing to the centromere of chromosome 8, 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.

Myelodysplastic syndromes (MDS) are a group of hematopoietic stem cell disorders associated with ineffective hematopoiesis and peripheral blood cytopenia. MDS patients have a high risk of progressing to acute leukemia. In about 50% of de novo MDS, cytogenetic aberrations are observed. A chromosome 20q deletion is seen in about 2% of MDS cases. Patients with a sole del(20q) have a favorable outcome. About 30% of all del(20q) patients are carrying additional recurrent chromosomal abnormalities such as del(5q), monosomy 7, del(7q) and trisomy 8. The presence of three or more additional aberrations is associated with an inferior outcome. 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. The knowledge of the cytogenetic status in MDS patients if of prognostic significance.

Clinical Applications

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

XL 20q12/20qter/8cen plus hybridized to lymphocytes. One normal interphase is shown.

• Solé et al (2005) Haematologica 90:1168-1178
• Douet-Gilbert et al (2008) Br J Haematol 143:716-720
• Bacher et al (2014) Br J Haematol 164:822-833