Karyotypic Variables in Turner Syndrome: A Case Series

Turner Syndrome (TS) is a medical disorder that affects about 1 in every 2500-3000 female live births worldwide. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Females who have this condition are usually shorter than average and infertile due to early loss of ovarian function. In order to study, about the different types of karyotypic variations that can result in TS, case studies of 10 different probands were analyzed. Analysis of each proband was done with respect to the clinical presentation, as well as a karyotype. It was observed that Mosaic TS had a much higher percentage of occurrence compared to monosomy X. Mosaics varied with respect to genotype combinations, as well as the presence of structural abnormalities on the X chromosome. The variable phenotype reflected the different possible clinical presentations seen in TS.