Keywords
Turner syndrome, karyotype, mosaicism, isochromosome
Abstract
Turner syndrome (TS) is a genetic disease associated with the complete or par-tial loss of one X chromosome, often with a mosaic karyotype. TS is the only one monosomy life-compatible, and affects approximately 1 in 2000-2500-2500 newborn girls [4; 13; 15; 16].