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.

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)

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

• 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

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.