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.
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.
Cena za kus: pro registrované
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.
Cena za kus: pro registrované
