M. L. Barr, M.D.
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Recent advances in human cytogenetics have broadened our concept of the natural history of Klinefelter's syndrome (seminiferous tubule dysgenesis), especially with respect to etiology. Errors in the segregation of daughter sex chromosomes during miosis or an early mitotic division of the zygote lead to intersexual sex chromosome complexes. The most common is XXY; others are XXYY, XXXY, XXXXY, or a cellular mosaicism in which a cell line contains one of the foregoing complexes.
Embryological development is normal; so is prepubertal development, aside from mental retardation, in perhaps one patient in four, and a scarcity of spermatogonia. However, several congenital defects
Barr ML. The Natural History of the Klinefelter Syndrome. American College of Physicians Award Lecture.. Ann Intern Med. ;56:682. doi: 10.7326/0003-4819-56-4-682_1
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Published: Ann Intern Med. 1962;56(4):682.
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