Browsing by Subject "Sex chromosome abnormalities"

Now showing 1 - 2 of 2
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    Cytogenetic studies of mosaicism
    (1987) Higgins, Michael D.
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    A Possible Etiology of the Infertile 46XX Male Subject
    (Elsevier, 1983-07) Butler, Merlin G.; Walzak, Myron P.; Sanger, Warren G.; Todd, Curtis T.; Medical and Molecular Genetics, School of Medicine
    We report on an infertile male patient with the predominant 46XX female karyotype. A testicular biopsy revealed widely separated testicular tubules, absence of sperm formation and large numbers of Leydig cells. Chromosome studies, including measurements of the X chromosomes, showed a significant difference between the lengths of the short arm of the 2 X chromosomes. This information lends support for an X-Y chromosome interchange as the etiology of this syndrome. The clinical features of this rare syndrome and other theories of etiology of XX male subjects are discussed.