Carr-Barr-Plunkett syndrome

Related people

A chromosome XXXX syndrome with mental deficiency and variable abnormalities.

Description

A genetic syndrome characterized by four chromosomes (48.XXXX). The symptoms include mental deficiency (IQ average 55) and variable abnormalities, including midfacial hypoplasia, hypertelorism, micrognathia, epicanthic folds, clinodactyly of fith finger, radioulnar synostosis, narrow shoulder girdle, and occasional webbed neck and amenorrhea. Irregular menstrual cycles. Behavioural disorders may be associated.

Bibliography

  • D. H. Carr, M. L. Barr, E. R. Plunkett:
    An XXXX sex chromosome complex in two mentally defective females.
    Canadian Medical Association Journal, 1961, 84: 131-137.

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