Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution

G. L. Nicolis, L. Y. Hsu, R. Sabetghadam, N. B. Kardon, P. R. Chernay, D. P. Mathur, H. G. Rose, K. Hirschhorn, J. L. Gabrilove

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

Two monozygotic twins with male phenotype had a 46,XX karyotype in the buccal mucosa, blood, skin and testis. The data in fourteen previously described phenotypic males with the 46,XX karyotype are reviewed. Although they resemble patients with classic (47,XXY) Klinefelter's syndrome they tend to be better virilized and often have less severe seminiferous tubular damage. Quinacrine staining of interphase and metaphase nuclei of various tissues failed to demonstrate the presence of a Y chromosome. The reason for the development of testicular structures and a male phenotype in these patients remains speculative.

Original languageEnglish
Pages (from-to)482-491
Number of pages10
JournalAmerican Journal of Medicine
Volume52
Issue number4
DOIs
StatePublished - Apr 1972

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