About 1 in 400 male and 1 in 650 female live births demonstrate some form of sex chromosome abnormality, although the symptoms of these conditions are generally much less severe than are those associated with autosomal abnormalities. Disorders of sexual development are conditions where a person’s reproductive organs and genitals are “mismatched” at birth Examples include male chromosomes (xy) and genitalia that appears female (vulva) or female chromosomes (xx) and genitalia that appears male (penis). In humans, these are the x and y chromosomes Examples of sex chromosome abnormalities include monosomy x or structural abnormalities of the x chromosome (such as isochromosome xq) Both anomalies cause turner syndrome.
In turner syndrome, a female is born with only one sex chromosome, an x, and is usually shorter than average and unable to have children, among other difficulties. These anomalies can arise during the formation of reproductive cells or during early development in the womb.
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