Turner Syndrome - The Identification Of Turner Syndrome, Genetic Defects, Clinical Manifestations Of Turner Syndrome, Loss Of Gene Function And Developmental Consequences

Turner Syndrome - The Identification Of Turner Syndrome

Turner Syndrome - Genetic Defects

First described by Dr. Henry Turner in 1938, Turner syndrome was later found to be due to a loss of genetic material in one of the two X-chromosomes. There are several ways in which Turner syndrome arises. Females have two X-chromosomes, while males have an X-chromosome and a Y-chromosome. While a Y-chromosome contains genes required for development of testicles in males, both X-chromosomes are re…

Turner Syndrome - Clinical Manifestations Of Turner Syndrome

Turner Syndrome - Loss Of Gene Function And Developmental Consequences

Short stature is usually present in females with Turner syndrome. This is partially due to a loss of the SHOX gene, which encodes a protein important for long bone growth. The height in adults with Turner syndrome ranges from 143-145 cm (approximately 4 ft 8 in). Treatment using growth hormones during early childhood development can increase growth by a few inches in some cases. The loss of the X-…