Tuesday, September 26, 2017

- Triple X syndrome (karyotype 47,XXX)

Triple X syndrome (karyotype 47,XXX)

Also called trisomy X

This affects 1 in 1000 live-born girls.

These patients show little phenotypic abnormality mostly hypertelorism and clinodactyly  but tend to be of tall stature.

Although intelligence is typically reduced compared with siblings it usually falls within normal or low–normal limits.

However, mild developmental and behavioral difficulties are more common. Fertility is normal but the incidence of early menopause is increased.

Delayed development of motor skills (such as sitting and walking), hypotonia, and behavioral and emotional difficulties are also possible, but these characteristics vary widely.

Seizures or kidney abnormalities occur in about 10 percent of affected females.

Treatment for triple X syndrome depends on which symptoms, if any, are present and their severity.

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