turner syndrome karyotype

Overview and Pathophysiology Turner Syndrome is a complex multi-system genetic disorder affecting females, characterized by the complete or partial loss of one X chromosome. While classic 45,X monosomy accounts for approximately 50% of cases, the remaining cases involve mosaicism (e.g., 45,X/46,XX) or structural X-chromosome abnormalities (e.g., isochromosome X). Key Clinical Nuances: Clinical Presentation & Systemic…