An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction. |
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| Authors: | G Anner n, M Andersson, D C Page, L G Brown, M Berg, G L ckgren, K H Gustavson, A de la Chapelle |
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| Affiliation: | Department of Clinical Genetics, Akademiska Hospital, University of Uppsala, Sweden. |
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| Abstract: | A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. |
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