ROBERT C. MILLER, B.S.; RICHARD M. GOODMAN, M.D.; FRANCES R. MILLER, B.A.; LANA NUSBAUM, B.S.
The abnormal karyotype (47/XXY) associated with the most common form of Klinefelter's syndrome was first observed by Jacobs and Strong (1) in 1959. Since then many cytogenetic variations have been noted, most of which involve polysomy of the X chromosome (2-4) or mosaicism (4-9). Other chromosomal variants of this syndrome include such alterations as polysomy of the Y chromosome (4, 7) and structural changes in one of the X chromosomes (4, 7, 9-11). One case has been reported involving a postulated break in the Y chromosome with translocation of its fragments to two other chromosomes (12).
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MILLER RC, GOODMAN RM, MILLER FR, NUSBAUM L. A New Variant of Klinefelter's Syndrome with a Presumptive Deleted Y Chromosome. Ann Intern Med. ;67:825–831. doi: 10.7326/0003-4819-67-4-825
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Published: Ann Intern Med. 1967;67(4):825-831.
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