[Turner's syndrome--correlation between karyotype and phenotype].
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.
Lacka
Katarzyna
K
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Science, Poznan, Poland. K_Lacka@wp.pl
D001827:Body Height / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D010024:Osteoporosis / Q000235:genetics; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics*