XL 5q31/5q33
The XL 5q31/5q33 locus-specific probe detects deletions in the long arm of chromosome 5. The orange labeled probe hybridizes to a specific region at 5q31 including the EGR1 gene. The green labeled probe hybridizes specifically to 5q33 and includes the RPS14 gene.
The myelodysplastic syndromes and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008) cytogenetic aberrations are observed in about 50 % of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3;3).
The 5q- syndrome is defined as a primary myelodysplastic syndrome (MDS) with del(5q) as the sole karyotypic abnormality. Two different critical regions are described; one is located at 5q31 and contains the EGR1 and CDC25C genes; a more distal region at 5q32-q33 contains RPS14 which has been identified as a causal gene for the 5q syndrome.
Cena za kus: pro registrované
The myelodysplastic syndromes and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008) cytogenetic aberrations are observed in about 50 % of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3;3).
The 5q- syndrome is defined as a primary myelodysplastic syndrome (MDS) with del(5q) as the sole karyotypic abnormality. Two different critical regions are described; one is located at 5q31 and contains the EGR1 and CDC25C genes; a more distal region at 5q32-q33 contains RPS14 which has been identified as a causal gene for the 5q syndrome.
Cena za kus: pro registrované
