{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:17Z","timestamp":1760766017489,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:p>An isodicentric X chromosome (46, X idic (X)(pter leads to qter::qter leads to pter)) with a single functioning centromere was found in all lymphocytes and fibroblasts examined from a female patient 171.5 cm in height presenting with primary amenorrhoea. Replication of the abnormal chromosome was consistently late. In some cells the pattern was asymmetrical but the asymmetry did not appear to relate to the position of the active centromere.<\/jats:p>","DOI":"10.1136\/jmg.19.6.463","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"463-465","source":"Crossref","is-referenced-by-count":8,"title":["Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern."],"prefix":"10.1136","volume":"19","author":[{"given":"J","family":"Robertson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Faed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Lamont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Crowder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF00295421","article-title":"Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile","volume":"39","author":"Fraccaro, M.; Maraschio, P.; Pasquali, F.; Scappaticci, S.","year":"1977","unstructured":"Fraccaro M, Maraschio P, Pasquali F, Scappaticci S. Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. Hum Genet 1977;39:283-92.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.1320030110","article-title":"Inherited interstitial del (Xp) with minimal clinical consequences. With a note on the location of genes controlling phenotypic features","volume":"3","author":"Herva, R.; Kaluzewski, B.; de la Chapelle, A.","year":"1979","unstructured":"Herva R, Kaluzewski B, de la Chapelle A. Inherited interstitial del (Xp) with minimal clinical consequences. With a note on the location of genes controlling phenotypic features. Am J Med Genet 1979;3:43-58.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1016\/S0140-6736(75)92586-6","article-title":"Cytogenetic evidence for evolution of X chromosome inactivation","volume":"i:","author":"Hoo, J.J.","year":"1975","unstructured":"Hoo JJ. Cytogenetic evidence for evolution of X chromosome inactivation. Lancet 1975;i:1299.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmg.17.4.291","article-title":"Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings","volume":"17","author":"Bernstein, R.; Jenkins, T.; Dawson, B.","year":"1980","unstructured":"Bernstein R, Jenkins T, Dawson B, et al. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. 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Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature 1977;265:142-4.","journal-title":"Nature"},{"key":"ref_7","first-page":"208","article-title":"X-chromosomes attached by their short arm: presence of an inactive centromere influences the replication patterns","volume":"23","author":"Maraschio, P.; Simoni, G.; Terzoli, G.L.; d'Alberton, A.; Crosignani, P.G.","year":"1980","unstructured":"Maraschio P, Simoni G, Terzoli GL, d'Alberton A, Crosignani PG. X-chromosomes attached by their short arm: presence of an inactive centromere influences the replication patterns. 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Am J Obstet Gynaecol 1980;136:904-1 1.","journal-title":"Am J Obstet Gynaecol"},{"key":"ref_10","first-page":"\"83","article-title":"Apparently isodicentric but functionally monocentric X chromosome in man","volume":"24","author":"Therman, E.; Sarto, G.E.; Patau, K.","year":"1974","unstructured":"Therman E, Sarto GE, Patau K. Apparently isodicentric but functionally monocentric X chromosome in man. AmJHum Genet 1974;24:83-92. 'L Dewald G, Spurbeck JL, Gordon H. Replication patterns of three isodicentric X chromosomes and an isochromosome in human lymphocytes. Am J Med Genet 1978;1: 445-60.","journal-title":"AmJHum Genet; L"},{"key":"ref_11","first-page":"\"69A.\" # \"971","article-title":"An apparent translocation of two X chromosomes attached long arm to long arm with two regions of centromeric heterochromatin 46, X, idic(X)(pqqp)","volume":"30","author":"Tegenkamp, T.R.; Gruber, J.; Fisher, A.","year":"1978","unstructured":"Tegenkamp TR, Gruber J, Fisher A. An apparent translocation of two X chromosomes attached long arm to long arm with two regions of centromeric heterochromatin 46,X,idic(X)(pqqp). Am J Hum Genet 1978;30: 69A. 13 Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Am J Hum Genet; Seabright M. A rapid banding technique for human chromosomes"},{"key":"ref_12","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.","year":"1972","unstructured":"Sumner A. A simple technique for demonstrating centromeric heterochromatin. 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Hum Genet 1979;48:135-7.","journal-title":"Hum Genet; Partial long arm deletion of an X chromosome in a patient with secondary amenorrhoea"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/BF00273289","article-title":"A case of long arm deletion of the X chromosome in a patient with secondary amenorrhoea","volume":"48","author":"Brankovic, S.; Laca, Z.; Dramusic, V.; Ivanovic, M.; MoricPetrovic, S.","year":"1979","unstructured":"Brankovic S, Laca Z, Dramusic V, Ivanovic M, MoricPetrovic S. A case of long arm deletion of the X chromosome in a patient with secondary amenorrhoea. 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