A New Variant of Klinefelter's Syndrome with a Presumptive Deleted Y Chromosome
Authors: ROBERT C. MILLER
Journal: Annals of Internal Medicine (1967)

Case Studies1 October 1967A New Variant of Klinefelter's Syndrome with a Presumptive Deleted Y ChromosomeROBERT C. MILLER, B.S., RICHARD M. GOODMAN, M.D., FRANCES R. MILLER, B.A., LANA NUSBAUM, B.S.ROBERT C. MILLER, B.S.Search for more papers by this author, RICHARD M. GOODMAN, M.D.Search for more papers by this author, FRANCES R. MILLER, B.A.Search for more papers by this author, LANA NUSBAUM, B.S.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-67-4-825 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe 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).The purpose of this...References1. JACOBSSTRONG PAJA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature (London) 183: 302, 1959. CrossrefMedlineGoogle Scholar2. FRASERBOYDLENNOXDENNISON JHEBWM: A case of XXXXY Klinefelter's syndrome. Lancet 2: 1064, 1961. CrossrefMedlineGoogle Scholar3. FERGUSON-SMITHJOHNSTONHANDMAKER MAAWSD: Primary amentia and micro-orchidism associated with an XXXY sex-chromosome constitution. Lancet 2: 184, 1960. CrossrefMedlineGoogle Scholar4. BARR ML: The natural history of Klinefelter's syndrome. Fertil. Steril. 17: 429, 1966. CrossrefMedlineGoogle Scholar5. 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MILLER, B.A.; LANA NUSBAUM, B.S.Affiliations: Columbus, OhioFrom the Department of Medicine, Ohio State University College of Medicine, Columbus, Ohio.This study was supported by general research grant 320002, 7008, National Institutes of Health, Bethesda, Md.This paper was presented at the combined Regional Meeting of the American College of Physicians, Morgantown, W. Va., January 20, 1967.Requests for reprints should be addressed to Richard M. Goodman, M.D., Department of Medicine, University Hospital, Columbus, Ohio 43210. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byLocalisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. 1 October 1967Volume 67, Issue 4Page: 825-831KeywordsChromosomal translocationsChromosomesCytogeneticsKaryotypesResearch grantsX chromosomes ePublished: 1 December 2008 Issue Published: 1 October 1967 PDF downloadLoading ...