Turner’s Syndrome

Turner’s Syndrome is a rare chromosomal disorder of females (1 in 2500) characterized by short stature and the lack of sexual development at puberty. This syndrome was first described by H.H. Turner in 1938. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Normally, females have two X chromosomes. In some cases of Turner’s Syndrome, however, one X chromosome is missing from the cells; research studies suggest that approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not. Although the exact cause of Turner’s Syndrome is not known, it is believed that the disorder may result from an error during the division of a parent’s sex cells.



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