XL 20q12/20qter/8cen plus

Deletion Probe

Order Number
D-5122-100-TC
Package Size
100 µl
Labels
  
Chromosome
20

Description

XL 20q12/20qter/8cen plus

The XL 20q12/20qter/8cen plus probe detects deletions which occur in the long arm of chromosome 20. An orange labeled probe hybridizes to 20q12 to the proximal part of PTPRT and a green labeled probe hybridizes to the q-terminal region of the long arm of chromosome 20. Additionally, a blue labeled probe hybridizes to the centromere of chromosome 8.

Clinical Details

The 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 to progress 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 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 has prognostic significance.

Clinical Applications

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

Images

XL 20q12/20qter/8cen plus

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

Expected Patterns

Expected Pattern 1

Normal Cell:
Two blue (2B), two green (2G), and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
Two blue (2B), two green (2G), and one orange (1O) signal resulting from the loss of one orange signal.

Expected Pattern 3

Aberrant Cell (typical results):
Three blue (3B), two green (2G), and one orange (1O) signal resulting from the loss of one orange signal and a trisomy of the blue labeled chromosome.

Expected Pattern 4

Aberrant Cell (typical results):
Two blue (2B), three green (3G), and one orange (1O) signal resulting from the presence of ider(20q).

Literature

  • 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

Downloads

Order Now or Request Assistance

Contact Us »

Contact MetaSystems directly or find your local MetaSystems partner.