Symptoms of 48, XXYY Syndrome
In infancy, children often show signs of delayed milestones like speech and motor skills, as well as certain medical features. These may include hypotonia (low muscle tone), feeding disorders, the appearance of teeth delayed, and crossed eyes. The neck may also be twisted.
A fold of skin covering the inner corner of the eye (epicanthal fold), an abnormally wide distance between the eyes (hypertelorism), and a bent or curved 5th finger (clinodactyly) are other physical characteristics.
Several other medical conditions are associated with 48, XXYY syndrome, including epilepsy, tremors, asthma/allergies, significant dental problems, gastrointestinal problems, joint laxity, sleep apnea, thrombosis, and type 2 diabetes. Another physical feature that is more noticeable during adolescence is tall stature.
Almost universally, microorchidism and the resulting testicular dysfunction cause hypergonadotropic hypogonadism (low testosterone levels) that starts in adolescence and persists throughout life.
Causes of 48, XXYY Syndrome
In 48, XXYY syndrome males have an extra X and Y chromosome as a result of a nondisjunction error occurring during the egg or sperm cell division.
Affected Population
The occurrence rate of 48, XXYY is 1/18,000 to 1/50,000 male births.
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