XL DiGeorge TBX1

Deletion Probe

Order Number
D-5415-050-OG
Package Size
50 µl (5 Tests)
Labels
  
Chromosome
22

Description

XL DiGeorge TBX1

XL DiGeorge TBX1 detects deletions in the long arm of chromosome 22. The orange labeled probe hybridizes to the TBX1 gene region at 22q11.21. A green labeled probe hybridizes to the 22cen region and functions as a control probe.

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.

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Clinical Details

22q11.2 deletion syndrome (22q11.2DS) includes the DiGeorge- and Velo-cardio-facial syndrome and is the most common microdeletion syndrome. The prevalence is estimated to be 1:3.000 to 1:6.000 live births. The features of 22q11.2DS vary widely and may include, but are not limited to, immunodeficiency, hypoparathyroidism, congenital heart disease, cleft palate, developmental disabilities, and schizophrenia. Up to 95% of the deletions identified occur de novo and are not inherited. 22q11.2DS related de novo deletions are mediated by non-allelic inter- and intrachromosomal homologous recombination between low copy number repeats on chromosome 22. A deletion of 3 Mb overlapping about 90 genes is detected in the vast majority of 22q11.2DS cases, whereas a smaller fraction is identified with a nested deletion of about 1.5Mb overlapping with about 55 genes. One of the most thoroughly investigated genes in this region is the T-box transcription factor 1 (Tbx1). Tbx1 is phylogenetically conserved and has manifold functions during embryonic development. Studies using mouse as a model organism have shown that Tbx1 is a key determinant in 22q11.2DS.

Clinical Applications

  • Microdeletion Syndrome (MicroDel)
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Images

XL DiGeorge TBX1

XL DiGeorge TBX1 hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Signal Pattern:
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

Expected Pattern 3

Aberrant Signal Pattern:
One green (1G) and two orange (2O) signal resulting from loss of one green signal.

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Literature

  • Edelmann et al (1999) Am J Hum Genet 64:1076-1086
  • Jerome and Papaioannou (2001) Nature Genet 27:286-291
  • McDonald-McGinn et al (2015) Nat Rev Dis Primers 1:1-19

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