Turner's syndrome is defined as a congenital disease determining by quantitative 
and/or structural aberrations of one from two X chromosomes with frequent 
presence of mosaicism. 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 thyroiditis 
with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. 
Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. 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.