XL Del(5)(q33)
The XL Del(5)(q33) detects deletions in the long arm of chromosome 5. The orange labeled probe is designed to hybridize to the RPS14 locus at 5q33. A green labeled probe is designed to hybridize to a specific locus at 5p15 and functions as a control probe.
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 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 containing 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 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 containing RPS14 which has been identified as a causal gene for the 5q syndrome.
Cena za kus: pro registrované
