Turner’s Syndrome - correlation between kariotpe and fenotype

Abstract

Turner’s syndrome is definied as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicizm. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyreoiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turners’ syndrome occurs in 1:2000 to 1:2500 female lifebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy – 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented.