- A dictionary of medical eponyms

Barr-Shaver-Carr syndrome

Related people

A chromosome XXXX syndrome with mental deficiency and variable abnormalities.

Description

Males affected, very rare in females. Present from birth. The patient has 48 chromosomes (XXXY karotype). XXXY syndrome resembles Klinefelter's syndrome: tall slim build, flat nasal bridge, epichantal folds, mild prognathism, delayed puberty, testes small or undescended, small penis, gynaecomastia (excessive breast development in the male), and mental retardation. Etiology: XXXY.

Bibliography

  • M. L. Barr, E. L. Shaver, D. H. Carr.
    An unusual sex chromatin pattern in three mentally deficient subjects.
    Journal of Mental Deficiency Research, 1963, 3: 78-87.

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