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Barr-Shaver-Carr syndrome


Associated persons:
Murray Llewellyn Barr
David H. Carr
Evelyn Louise Shaver

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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