Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Turner Syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl's body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY).

A chromosomal disorder in which a female is born with only one X chromosomeTurner syndrome results from a missing or incomplete sex chromosome. Symptoms include short stature, delayed puberty, infertility, heart defects and certain learning disabilities.Treatment involves hormone therapy. Fertility treatment may be necessary for women who want to become pregnant.