{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:21:32Z","timestamp":1760833292248,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:p>We have studied three patients with features of Turner's syndrome, two with a 45,X\/46,X,r(?) and the third with a 45,X\/46,X,dic?(Y) karyotype. Because Turner's syndrome patients with a mosaic karyotype containing a Y chromosome are known to have a high risk of developing gonadal tumours, we used DNA analysis and in situ hybridisation with X and Y specific probes to identify the chromosomal origin of the rings and dicentric chromosomes in the three index patients. Both ring chromosomes were shown to be of X origin, while the dicentric was composed of Y chromosome material. We discuss the importance of using a combination of molecular and cytogenetic analyses in such cases.<\/jats:p>","DOI":"10.1136\/jmg.28.1.6","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"6-9","source":"Crossref","is-referenced-by-count":13,"title":["An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes."],"prefix":"10.1136","volume":"28","author":[{"given":"C","family":"Cooper","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Crolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Laister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D I","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Cooke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1002\/1097-0142(197006)25:6<1340::AID-CNCR2820250612>3.0.CO;2-N","article-title":"A review of 74 cases","volume":"25","author":"Gonadoblastoma, Scully R.E.","year":"1970","unstructured":"Scully RE. Gonadoblastoma. A review of 74 cases. Cancer 1970;25: 1340-55.","journal-title":"Cancer"},{"issue":"1","key":"ref_2","first-page":"15","article-title":"The relationship of neoplasia to disorders of abnormal sexual differentiation","volume":"12","author":"Simpson, J.L.; Photopulos, G.","year":"1976","unstructured":"Simpson JL, Photopulos G. The relationship of neoplasia to disorders of abnormal sexual differentiation. Birth Defects 1976;12(1):15-50.","journal-title":"Birth Defects"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/BF00569699","article-title":"Non-fluorescent Y chromosome. Cytologic evidence of origin","volume":"60","author":"Magenis, E.; Donlon, T.","year":"1982","unstructured":"Magenis E, Donlon T. Non-fluorescent Y chromosome. Cytologic evidence of origin. 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The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma 1972;36:204-10.","journal-title":"Chromosoma"},{"key":"ref_7","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 AT. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 1972;75:304-6.","journal-title":"Exp Cell Res"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/0022-2836(85)90234-7","article-title":"Isolation and characterisation of an alphoid centromeric repeat family from the human Y chromosome","volume":"182","author":"Wolfe, J.; Darling, S.M.; Erikson, R.P.","year":"1985","unstructured":"Wolfe J, Darling SM, Erikson RP, et al. Isolation and characterisation of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 1985;182:477-85.","journal-title":"J Mol Biol"},{"key":"ref_9","article-title":"Cosmid clones derived from both euchromatic and heterochromatic regions of the human Y chromosome","volume":"3","author":"Wolfe, J.; Erikson, R.P.; Rigby, P.W.J.; Goodfellow, P.N.","year":"1984","unstructured":"Wolfe J, Erikson RP, Rigby PWJ, Goodfellow PN. Cosmid clones derived from both euchromatic and heterochromatic regions of the human Y chromosome. EMBO J 1984;3:19972003.","journal-title":"EMBO J"},{"key":"ref_10","first-page":"109","article-title":"Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism","volume":"87","author":"Muller, U.; Donlon, T.A.; Kunkle, S.M.; Lalande, M.; Latt, S.A.","year":"1987","unstructured":"Muller U, Donlon TA, Kunkle SM, Lalande M, Latt SA. 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