Incidence and prevalence of chromosomal abnormality among turner syndrome and turner variant with variable clinical spectrum

Turner syndrome is one of the most common and important sex chromosomal disorders. They have wide spectrum of abnormalities ranging from short stature, primary amenorrhea, and infertility. Cytogenetic findings determine different types of karyotype and variable percentage of mosaicism. In this study, our main motto is to correlate the genotype with the phenotype of the patients with short stature, primary amenorrhea, and infertility and characteristic of Turner Stigmata. Cytogenetic evaluation was done by peripheral leukocyte culture with conventional GTB banding and karyotype analysis by cytovision software. Chromosome profiling was done by cytovision software 3.92 and florescence in situ hybridization was carried out in single indicated cases for further confirmation. In our study we included 20 suspected cases with turner characteristic or turner like characteristic. Among them we found karyotype with 45X , 44,X/46,XX , 46XX/46XY, 45,X/46,XY 46X,del(Xq), 46,del(Xp), 46,X,i(Xq). In the present study the variable degree of mosaicism and variable chromosomal abnormality were clinically correlated with wide spectrum of abnormal phenotype and established the importance of cytogenetic evaluation in such cases before therapy or management.