[Turner's syndrome--correlation between karyotype and phenotype].

Abstract excerpt

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...

Topics

• Body Height
• Chromosomes, Human, X
• Cognition Disorders
• Female
• Gastrointestinal Diseases
• Growth Disorders
• Humans
• Hypothyroidism
• Intellectual Disability
• Osteoporosis
• Phenotype
• Sex Chromosome Aberrations
• Turner Syndrome