{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:16:56Z","timestamp":1760833016594,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,8]]},"abstract":"<jats:p>A phenotypically normal male was found to have a chromosomal complement of 45,X\/46,XY\/47,XY, +21. This mosaic pattern has been reported only twice before. Although the patient had apparently fathered two children, he now has progressive impotence, absence of sperm in the seminal fluid, atrophic testes, almost complete absence of germ cells in testicular biopsies, high plasma LH and FSH, and a low normal testosterone. There were no physical characteristics of Turner's or Down's syndromes except for dermatoglyphic features commonly associated with the latter. These observations in this patients emphasise the value of chromosomal studies in multiple tissues in cases of mosaicism with atypical clinical features.<\/jats:p>","DOI":"10.1136\/jmg.17.4.319","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"319-321","source":"Crossref","is-referenced-by-count":4,"title":["45,X\/46,XY\/47,XY, +21 mosaicism in a hypogonadal phenotypic male."],"prefix":"10.1136","volume":"17","author":[{"given":"M","family":"Sparagana","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P W","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T R","family":"Dorsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Casten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Rauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Szego","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1210\/jcem-26-8-847","article-title":"Testicular XO\/XY mosaicism in a phenotypic female with XY sex chromosome in other tissues","volume":"26","author":"Schlegal, R.J.; Carneiro Leao, J.; Nen, R.L.; Farias, E.; Gardner, L.I.","year":"1966","unstructured":"Schlegal RJ, Carneiro Leao J, Nen RL, Farias E, Gardner LI. Testicular XO\/XY mosaicism in a phenotypic female with XY sex chromosome in other tissues. J Clin Endocrinol 1966;26:847-51.","journal-title":"J Clin Endocrinol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1126\/science.854739","article-title":"H-Y antigen: expression in human subjects with the testicular feminization syndrome","volume":"196","author":"Koo, G.; Wachtel, S.S.; Saeger, P.; New, M.I.; Dosik, H.; Amarose, A.P.; Dorus, E.","year":"1977","unstructured":"Koo G, Wachtel SS, Saeger P, New MI, Dosik H, Amarose AP, Dorus E. H-Y antigen: expression in human subjects with the testicular feminization syndrome. Science 1977;196:655-6.","journal-title":"Science"},{"key":"ref_3","first-page":"47","article-title":"Cytogenetic study of seventy-three patients with Down's syndrome","volume":"10","author":"Edgren, J.; de la Chapelle, A.; Kaariainen, R.","year":"1966","unstructured":"Edgren J, de la Chapelle A, Kaariainen R. Cytogenetic study of seventy-three patients with Down's syndrome. J Ment Defic Res 1966;10:47-62.","journal-title":"J Ment Defic Res"},{"issue":"46","key":"ref_4","first-page":"316","article-title":"Repository of chromosomal variants and anomalies in man, 5th listing","volume":"45","author":"Konstantinova, B.","year":"1978","unstructured":"Konstantinova B. 45,X\/46,XY\/47,XY, +21. In: Borgaonkar D, ed. Repository of chromosomal variants and anomalies in man, 5th listing. Denton: North Texas State University, 1978:316."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"ii:","author":"Seabright, M.","year":"1971","unstructured":"Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Lancet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000130130","article-title":"Localization of heterochromatin in human chromosomes","volume":"10","author":"Arrighi, F.E.; Hsu, T.C.","year":"1971","unstructured":"Arrighi FE, Hsu TC. Localization of heterochromatin in human chromosomes. Cytogenetics 1971;10:81-6.","journal-title":"Cytogenetics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/0014-4827(70)90523-9","article-title":"Differential binding of alkylating fluorochromes in human chromosomes","volume":"60","author":"Caspersson, T.; Zech, L.; Johnansson, C.","year":"1970","unstructured":"Caspersson T, Zech L, Johnansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 1970;60:315-9.","journal-title":"Exp Cell Res"},{"key":"ref_8","article-title":"Abnormalities of the sex chromosome complement in man. Medical Research Council Special Report No 350","author":"Court-Brown, W.H.; Harnden, D.G.; Jacobs, P.A.; Maclean, N.; Mantle, D.J.","year":"21.","unstructured":"Court-Brown WH, Harnden DG, Jacobs PA, Maclean N, Mantle DJ. Abnormalities of the sex chromosome complement in man. Medical Research Council Special Report No 350. London: HMSO, 1964:21."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1136\/jmg.2.2.142","article-title":"Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on pathogenesis of malformations","volume":"2","author":"Ferguson-Smith, M.A.","year":"1965","unstructured":"Ferguson-Smith MA. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on pathogenesis of malformations. J Med Genet 1965;2:142-56.","journal-title":"J Med Genet"},{"key":"ref_10","unstructured":"The patient weighed 1818 g at birth and was delivered vaginally after the onset of premature labour at 36 weeks' gestation. The prenatal course had otherwise been uneventful. At conception her mother was 27 years old and her father was 31 years old. Except for her prematurity, the patient appeared to be normal at birth and her subsequent intellectual and physical development were entirely normal until puberty. At 13 years of age she had undergone a right adnexectomy for an 18 cm malignant teratoma and at that laparotomy the uterus, fallopian tubes, and left gonad appeared normal and prepubertal.","article-title":"The patient weighed 1818 g at birth and was delivered vaginally after the onset of premature labour at 36 weeks' gestation. The prenatal course had otherwise been uneventful. At conception her mother was 27 years old and her father was 31 years old. Except for her prematurity, the patient appeared to be normal at birth and her subsequent intellectual and physical development were entirely normal until puberty. At 13 years of age she had undergone a right adnexectomy for an 18 cm malignant teratoma and at that laparotomy the uterus, fallopian tubes, and left gonad appeared normal and prepubertal"},{"issue":"4","key":"ref_11","article-title":"The patient was first evaluated by us at 19 years of age because of primary amenorrhoea. She appeared to be an intelligent female with a height of 152 5 cm, arm span","volume":"151","year":"1980","unstructured":"The patient was first evaluated by us at 19 years of age because of primary amenorrhoea. She appeared to be an intelligent female with a height of 152 5 cm, arm span of 151 *4 cm, weight of 39 5 kg, and she was normotensive. Breast development and axillary hair were lacking, but a few pubic hairs were present. Although the vagina, cervix, and uterus were infantile, the clitoris measured 1 * 5 x 0-5 cm. No adnexal Received for publication 17 January 1980","journal-title":"of; cm, weight of 39 5 kg, and she was normotensive. Breast development and axillary hair were lacking, but a few pubic hairs were present. Although the vagina, cervix, and uterus were infantile, the clitoris measured 1 * 5 x 0-5 cm. No adnexal Received for publication"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.4.319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:20:23Z","timestamp":1760772023000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.4.319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,8]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1980,8,1]]},"published-print":{"date-parts":[[1980,8]]}},"alternative-id":["10.1136\/jmg.17.4.319"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.4.319","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,8]]}}}