Gene Expression Profiling in 45X Turner Syndrome patients

Turner Syndrome (TS) is the most common X chromosome aneuploidy disorder in female, and the predominant karyotype is 45X, a complete loss of the second sex chromosome. Depending on the parental origin of the single X chromosome, 45X patients can be further divided into two groups: 45Xm and 45Xp with maternal and paternal inherited X chromosome, respectively. TS patients of 45Xm and 45Xp are found to associate with different severity in phenotype, including prevalence for cardiovascular disease. To study parental X chromosome impact to TS phenotype, differential gene expression in PBMC of 45Xm and 45Xp was analyzed by microarray. Gene expression for normal female 46XX was also analyzed in parallel to investigate the whole genome-wide gene expression changes between monosomy X TS patients and normal females.