Turner Syndrome is a genetic condition characterized by the complete or partial absence of one of the X chromosomes in individuals with a female phenotype. First described independently by Otto Ullrich and Henry Turner, this syndrome is identified by a combination of characteristic physical features, including short stature, gonadal dysgenesis, distinctive dysmorphic features, and organ abnormalities .
Turner Syndrome, also known as Ullrich-Turner Syndrome, is defined by these distinctive physical traits and chromosomal abnormalities, which often include cell-line mosaicism. The condition has garnered increasing interest over the past two decades as researchers seek to understand its multifaceted features and provide lifelong support for those affected. Advances in research have led to the development of multidisciplinary care approaches for individuals with Turner Syndrome, improving their quality of life .
At Genoverse, we offer specialized cytogenetic services to diagnose Turner Syndrome accurately and comprehensively. Our expert team utilizes the latest technologies and methodologies to detect chromosomal abnormalities associated with this condition, ensuring precise and reliable results for patients and healthcare providers.
