XL Del(20q) plus

Deletion Probe

Order Number
D-5119-100-OG
Package Size
100 µl
Labels
  
Chromosome
20

Description

XL Del(20q) plus

The XL Del(20q) plus probe detects deletions which occur in the long arm of chromosome 20. The probe mixture includes two probes: an orange labeled one which hybridizes to 20q12 and includes the proximal part of PTPRT, and a green labeled probe which hybridizes to 20q13 and includes the MYBL2 locus.

Clinical Details

The 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 observerd, deletions are predominate, 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 that is flanked by the PTPRT gene and includes the MYB2 gene. Sole del(20q) is associated with a more favorable outcome.

Clinical Applications

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

Images

XL Del(20q) plus

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

Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

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

Expected Pattern 3

Aberrant Cell (typical results):
One green (1G) and two orange (2O) signals resulting from loss of one green signal.

Expected Pattern 4

Aberrant Cell (typical results):
One green (1G) and one orange (1O) signal resulting from loss of one green and one orange signal.

Literature

  • 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

Downloads

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