A chromosome XXXX syndrome with mental deficiency and variable abnormalities.
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.
- 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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