XL Williams Beuren
XL Williams-Beuren detects deletions in the long arm of chromosome 7. The orange labeled probe hybridizes to the ELN locus at 7q11.23. The green labeled probe hybridizes to a specific locus at 7p11.2 and functions as a reference probe.
The Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome with an estimated prevalence of 1:7.500 to 1:25.000 newborns. WBS phenotype is complex, age-dependent and varies between individuals. Newborns have characteristic ´elfin-like´ facial features with full cheeks, small head, flat nasal bridge, broad forehead, prominent open mouth, broad nose and puffiness around eyes and lips. Patients have a wide spectrum of features affecting the cardiovascular system, development and cognition, teeth, endocrine system, gastrointestinal tract, acoustic perception, nose and throat. One of the most fatal and characteristic complications is supravalvular aortic stenosis (SVAS). WBS is associated with a chromosomal microdeletion in region 7q11.23. The common critical region is about 1.6 Mb in size and contains more than 20 genes, including ELN (elastin) and LIMK1 (LIM domain kinase 1). Haploinsufficiency of ELN correlates with cardiovascular problems and is responsible for the SVAS phenotype of WBS patients. Deletions in region 7q11.23 are a consequence of non-allelic homologous recombination between low copy repeat elements flanking the WBS deleted region. Most WBS cases are sporadic, only few cases are transmitted vertically.
Cena za kus: pro registrované
The Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome with an estimated prevalence of 1:7.500 to 1:25.000 newborns. WBS phenotype is complex, age-dependent and varies between individuals. Newborns have characteristic ´elfin-like´ facial features with full cheeks, small head, flat nasal bridge, broad forehead, prominent open mouth, broad nose and puffiness around eyes and lips. Patients have a wide spectrum of features affecting the cardiovascular system, development and cognition, teeth, endocrine system, gastrointestinal tract, acoustic perception, nose and throat. One of the most fatal and characteristic complications is supravalvular aortic stenosis (SVAS). WBS is associated with a chromosomal microdeletion in region 7q11.23. The common critical region is about 1.6 Mb in size and contains more than 20 genes, including ELN (elastin) and LIMK1 (LIM domain kinase 1). Haploinsufficiency of ELN correlates with cardiovascular problems and is responsible for the SVAS phenotype of WBS patients. Deletions in region 7q11.23 are a consequence of non-allelic homologous recombination between low copy repeat elements flanking the WBS deleted region. Most WBS cases are sporadic, only few cases are transmitted vertically.
Cena za kus: pro registrované
