{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:19Z","timestamp":1760767819872,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,6]]},"abstract":"<jats:p>A newborn child with ambiguous external genitalia had evidence of internal female development on the left and internal male development on the right. Blood chromosome analysis showed three cell types: 45,X; 46,XY with the Y being submetacentric and about twice the usual size with two 'centromeric' C bands; and 46,X,dic(Y). Chromosome studies from the skin, uterus, and Fallopian tube showed almost exclusively 45,X cells. This represents the second reported patient in whom two centromeres are inconsistently expressed though present as shown by two 'centromeric' C bands.<\/jats:p>","DOI":"10.1136\/jmg.15.3.232","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"232-236","source":"Crossref","is-referenced-by-count":3,"title":["Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia."],"prefix":"10.1136","volume":"15","author":[{"given":"B","family":"Fass","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Lippe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,6,1]]},"reference":[{"key":"ref_1","first-page":"17","article-title":"A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite","author":"Buchanan, P.D.; Wyandt, H.E.; D'Ercole, A.J.; Rao, K.W.; Hartsell, M.L.","year":"1976","unstructured":"Buchanan, P. D., Wyandt, H. E., D'Ercole, A. J., Rao, K. W., and Hartsell, M. L. (1976). A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite. Cytogenetics and Cell Genetics, 17,42-50.","journal-title":"Cytogenetics and Cell Genetics"},{"key":"ref_2","first-page":"215","article-title":"Identification of human chromosomes by DNA-binding fluorescing agents","volume":"30","author":"Caspersson, T.; Zech, L.; Johansson, C.; Modest, E.J.","year":"1970","unstructured":"Caspersson, T., Zech, L., Johansson, C., and Modest, E. J. (1970). Identification of human chromosomes by DNA-binding fluorescing agents. Chromosoma, 30, 215-227.","journal-title":"Chromosoma"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1136\/jmg.10.1.74","article-title":"Human dicentric Y chromosomes. Case report and review of the literature","volume":"10","author":"Cohen, M.M.; MacGillivray, H.M.; Capraro, V.J.; Aceto, T.A.","year":"1973","unstructured":"Cohen, M. M., MacGillivray, H. M., Capraro, V. J., and Aceto, T. A. (1973). Human dicentric Y chromosomes. Case report and review of the literature. Journal ofMedical Genetics, 10, 74.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1001\/jama.1976.03270230027022","article-title":"Y chromosomal genes in a phenotypic male with a 46, XX karyotype","volume":"236","author":"Dosik, H.; Wachtel, S.S.; Kohn, F.; Spengel, G.E.; Koo, G.C.","year":"1976","unstructured":"Dosik, H., Wachtel, S. S., Kohn, F., Spengel, G. E., and Koo, G. C. (1976). Y chromosomal genes in a phenotypic male with a 46,XX karyotype. Journal of the American Medical Association, 236, 2505-2508.","journal-title":"Journal of the American Medical Association"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1056\/NEJM197511202932110","article-title":"Y-linked genes and male sex determination","volume":"293","author":"Gerald, P.S.","year":"1975","unstructured":"Gerald, P. S. (1975). Y-linked genes and male sex determination. New England Journal ofMedicine, 293, 1095.","journal-title":"New England Journal ofMedicine"},{"key":"ref_6","first-page":"167","article-title":"Skin culture and solid tumor technique. In Human Chromosome Methodology","author":"Harnden, D.G.","year":"1974","unstructured":"Harnden, D. G. (1974). Skin culture and solid tumor technique. In Human Chromosome Methodology, 2nd ed., pp. 167-184. Ed. by J. J. Yunis. Academic Press, New York.","edition":"2nd ed"},{"key":"ref_7","first-page":"782","article-title":"Serum 17 hydroxyprogesterone, progesterone, estradiol and testosterone in the diagnosis and management of CAH","volume":"35","author":"Lippe, B.M.; La Franchi, S.H.; Lavin, N.; Parlow, A.; Coyotupa, T.; Kaplan, S.A.","year":"1974","unstructured":"Lippe, B. M., La Franchi, S. H., Lavin, N., Parlow, A., Coyotupa, T., and Kaplan, S. A. (1974). Serum 17 hydroxyprogesterone, progesterone, estradiol and testosterone in the diagnosis and management of CAH. Journal ofPediatrics, 35, 782-787.","journal-title":"Journal ofPediatrics"},{"key":"ref_8","first-page":"2","article-title":"A rapid banding technique for human chromosomes","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2,971-972.","journal-title":"Lancet"},{"issue":"57-66","key":"ref_9","article-title":"Structural aberrations of the Y chromosome and the corresponding phenotype","volume":"19","author":"Siebers, J.W.; Vogel, W.","year":"1973","unstructured":"Siebers, J. W., and Vogel, W. (1973). Structural aberrations of the Y chromosome and the corresponding phenotype. Humangenetik, 19,57-66.","journal-title":"Humangenetik"},{"key":"ref_10","first-page":"195","article-title":"H-Y antigen: Behavior and function","author":"Silvers, W.K.; Wachtel, S.S.","year":"1977","unstructured":"Silvers, W. K., and Wachtel, S. S. (1977). H-Y antigen: Behavior and function. Science, 195,956-960.","journal-title":"Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/0014-4827(72)90558-7","article-title":"A simple technique for demonstrating centromeric heterochromatin","volume":"75","author":"Sumner, A.T.","year":"1972","unstructured":"Sumner, A. T. (1972). A simple technique for demonstrating centromeric heterochromatin. Experimental Cell Research, 75, 304-306.","journal-title":"Experimental Cell Research"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/j.1399-0004.1976.tb01588.x","article-title":"45, XO\/46, XYqdic mosaicism in a patient with ambiguous genitalia","volume":"9","author":"Tuncbilek, E.; Halicioglu, C.; Barrow, M.; Ustoy, K.","year":"1976","unstructured":"Tuncbilek, E., Halicioglu, C., Barrow, M., and Ustoy, K. (1976). 45,XO\/46,XYqdic mosaicism in a patient with ambiguous genitalia. Clinical Genetics, 9, 365-370.","journal-title":"Clinical Genetics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1056\/NEJM197511202932105","article-title":"Expression of H-Y antigen in human males with two Y chromosomes","volume":"293","year":"1975","unstructured":"Wachtel, S. S., Koo, G. C., Breg, W. R., Elias, S., Boyse, E. A., and Miller, 0. J. (1975). Expression of H-Y antigen in human males with two Y chromosomes. New England Journal of Medicine, 293, 1070-1072.","journal-title":"New England Journal of Medicine"},{"key":"ref_14","article-title":"Deletion Dq has been described in a number of cases. In most where banding was performed, it has, however, been found to be","author":"13q (Allerdice","year":"1974","unstructured":"Deletion Dq has been described in a number of cases. In most where banding was performed, it has, however, been found to be deletion 13q (Allerdice et al., 1969; Wilson et al., 1969; Gey, 1970; Orbeli et al., 1971; Grosse and Schwanitz, 1973; Wilson et al., 1973; Adamek and Kasparkova, 1974; Ikeuchi et al., 1974; Orye et al., 1974; Kucerova et al., 1975; Noel et al., 1976) (Table ). Against the background of these findings and the findings of partial trisomy 13, Lewandowski and Yunis (1975) have produced a phenotypic map of chromosome 13.","journal-title":"et al; Against the background of these findings and the findings of partial trisomy 13, Lewandowski and Yunis; Ikeuchi"},{"key":"ref_15","article-title":"described a presumptive case of deletion 14q","author":"Wilson","year":"1969","unstructured":"Wilson et al. (1969) described a presumptive case of deletion 14q, but later found that it was actually deletion 13q (Wilson et al., 1973)."},{"key":"ref_16","article-title":"Very few cases of pericentric inversion D have been described previously; 4 cases of pericentric inversion","author":"Hauksdottir","year":"1967","unstructured":"Very few cases of pericentric inversion D have been described previously; 4 cases of pericentric inversion 13 (Hauksdottir et al., 1972; Taysi et al., 1973; McDermott and Parrington, 1975), and 2 cases of pericentric inversion 15 (Cohen et al., 1967; Crandall and Sparkes, 1970) have been described, but no cases of chromosome 14 pericentric inversion.","journal-title":"et al; 2 cases of pericentric inversion 15 (Cohen"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.3.232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:32:37Z","timestamp":1760765557000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.3.232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1978,6,1]]},"published-print":{"date-parts":[[1978,6]]}},"alternative-id":["10.1136\/jmg.15.3.232"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.3.232","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,6]]}}}