{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T11:45:37Z","timestamp":1767354337710,"version":"3.48.0"},"reference-count":39,"publisher":"The Royal Society","issue":"1208","license":[{"start":{"date-parts":[[1988,12,1]],"date-time":"1988-12-01T00:00:00Z","timestamp":596937600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1988,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Accidental recombination between the differential segments of the X and Y chromosomes in man occasionally allows transfer of Y-linked sequences to the X chromosome leading to testis differentiation in so-called XX males. Loss of the same sequences by X-Y interchange allows female differentiation in a small proportion of individuals with XY gonadal dysgenesis. A candidate gene responsible for primary sex determination has recently been cloned from within this part of the Y chromosome by Page and his colleagues. The observation that a homologue of this gene is present on the short arm of the X chromosome and is subject to X-inactivation, raises the intriguing possibility that sex determination in man is a quantitative trait. Males have two active doses of the gonad determining gene, and females have one dose. This hypothesis has been tested in a series of XX males, XY females and XX true hermaphrodites by using a genomic probe, CMPXY1, obtained by probing a Y-specific DNA library with synthetic oligonucleotides based on the predicted amino-acid sequence of the sex-determining protein. The findings in most cases are consistent with the hypothesis of homologous gonad-determining genes, GDX and GDY, carried by the X and Y chromosomes respectively. It is postulated that in sporadic or familial XX true hermaphrodites one of the GDX loci escapes X-inactivation because of mutation or chromosomal rearrangement, resulting in mosaicism for testis and ovary-determining cell lines in somatic cells. Y-negative XX males belong to the same clinical spectrum as XX true hermaphrodites, and gonadal dysgenesis in some XY females may be due to sporadic or familial mutations of GDX.<\/jats:p>","DOI":"10.1098\/rstb.1988.0121","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T15:03:58Z","timestamp":1166195038000},"page":"133-144","source":"Crossref","is-referenced-by-count":12,"title":["Accidental X-Y recombination and the aetiology of XX males and true hermaphrodites"],"prefix":"10.1098","volume":"322","author":[{"given":"Malcolm Andrew","family":"Ferguson-Smith","sequence":"first","affiliation":[{"name":"Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, U. K."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. A.","family":"Affara","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, U. K."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"175","reference":[{"key":"p_1","first-page":"5375","article-title":"Variable transfer of Y specific sequences in X X males","volume":"14","author":"Affara N. A.","year":"1986","journal-title":"Adds Res."},{"key":"p_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.13.5353"},{"key":"p_3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.18.7325"},{"key":"p_4","doi-asserted-by":"crossref","unstructured":"Andersson M. Page D. C. & de la Chapelle A. 1986 Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human X X males. Science Wash. 233 786-788.","DOI":"10.1126\/science.3738510"},{"key":"p_5","first-page":"197","article-title":"Localisation of Y chromosome sequences in normal and X X males. J. med","volume":"24","author":"Buckle V. 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Genet."},{"key":"p_13","unstructured":"Ferguson-Smith M. A. 1965 a Sex chromatin Klinefelter's syndrome and mental deficiency. In The sex chromatin (ed. K. L. Moore) pp. 277-315. Philadelphia: W. B. Saunders."},{"key":"p_14","first-page":"142","article-title":"bKaryotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med","volume":"2","author":"Ferguson-Smith M. A.","year":"1965","journal-title":"Genet."},{"key":"p_15","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(66)92778-4"},{"key":"p_16","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.1988.0046"},{"key":"p_17","doi-asserted-by":"crossref","unstructured":"Ferguson-Smith M. A. Affara N. A. & Magenis R. E. 1987 Ordering of Y specific sequences by deletion mapping and analysis of X-Y interchange males and females. 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