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Other X Chromosome Anomalies

By Nina N. Powell-Hamilton, MD, FAAP, FACMG, Alfred I. duPont Hospital for Children ;Thomas Jefferson University Medical College

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About 1/1000 apparently normal females have a 47,XXX (trisomy X) karyotype. Physical anomalies are rare. Menstrual irregularity and infertility sometimes occur. Affected girls may have mildly impaired intellect and may have more school problems than siblings. Advanced maternal age increases risk of the triple X anomaly, and the extra X chromosome is usually maternally derived.

Although rare, 48,XXXX and 49,XXXXX females exist. There is no consistent phenotype. The risk of intellectual disability and congenital anomalies increases markedly when there are > 3 X chromosomes. The genetic imbalance in early embryonic life may cause anomalous development.

* This is the Professional Version. *