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Sex chromosome abnormalities

Sex chromosome abnormalities occur when there is an extra or missing copy of one of the sex chromosomes. One type of sex chromosome abnormality that affects girls is called Turner syndrome. Girls with Turner syndrome are missing one X chromosome. Other common sex chromosome abnormalities are caused by an extra chromosome. Although most affected individuals have an IQ that is in the normal range, some but not all, have learning disabilities or delays. In general, presentation is less severe than what is seen in trisomies 18, 13, and 21. Children with sex chromosomes abnormalities typically do not have major birth defects. The risk of some sex chromosome abnormalities increase with maternal age.

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