Turner syndrome is a condition that is present at birth and only affects females. The
cause of Turner syndrome is the complete or partial absence of one of the two X chromosomes. Turner syndrome can cause a broad array of features and symptoms, from minor cosmetic issues to major heart defects. The amount of features and symptoms is different for each woman. Almost all women with Turner syndrome have short stature and loss of ovarian function.
How Common Is Turner Syndrome?
Turner syndrome occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths). Prenatal testing has probably decreased the number of diagnosed cases of Turner syndrome.
The cause of Turner syndrome is the complete or partial absence of one of the two X chromosomes (sex chromosomes).
About half of the individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes
(see X Chromosome Monosomy).
Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as X chromosome mosaicism
(see Mosaic Turner Syndrome).
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