{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T21:32:07Z","timestamp":1771104727309,"version":"3.50.1"},"reference-count":39,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,12]]},"abstract":"<jats:p>We have reviewed 50 cases of paracentric inversions. Of these 34 were familial with 62 phenotypically normal carrier relatives. Twenty of the 50 were discovered fortuitously. There were two reports of children with easily recognised unbalanced karyotypes resulting from a paracentric inversion in one of the parents. The vast majority of paracentric inversions are harmless. The risk of abnormal children for paracentric inversion heterozygotes is low but increases with the finding of recurrent abortions or abnormal children or both in other carriers in the family. We emphasise the need for caution in interpreting the results of antenatal diagnosis because of the variety of unexpected unbalanced chromosome types that can result from a paracentric inversion, and the difficulty in recognising, with confidence, minute differences (for the detection of which very high resolution banding is required) between apparently similar parental and fetal inversions.<\/jats:p>","DOI":"10.1136\/jmg.21.6.407","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"407-412","source":"Crossref","is-referenced-by-count":37,"title":["Paracentric inversions in man."],"prefix":"10.1136","volume":"21","author":[{"given":"K","family":"Madan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Seabright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Lindenbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Bobrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,12,1]]},"reference":[{"key":"ref_1","article-title":"Pericentric inversions, that is, inversions in which the centromere is included in the inverted segment, have been widely reported and discussed in man. In contrast, paracentric inversions, that is, inversions involving only one arm of the chromosome, were not reported in man before the advent of banding techniques. Since 1974 they have appeared with steadily increasing frequency in published reports. Details of 32 cases reported so far are presented in table 2","unstructured":"Pericentric inversions, that is, inversions in which the centromere is included in the inverted segment, have been widely reported and discussed in man. In contrast, paracentric inversions, that is, inversions involving only one arm of the chromosome, were not reported in man before the advent of banding techniques. Since 1974 they have appeared with steadily increasing frequency in published reports. Details of 32 cases reported so far are presented in table 2."},{"issue":"5","key":"ref_2","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1093\/genetics\/5.5.488","article-title":"Genetic studies on Drosophila simulans. I. 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Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet 1974;26:746-66.","journal-title":"Am J Hum Genet"},{"key":"ref_8","first-page":"203","article-title":"Inversion homozygosity of chromosome No 9 in a highly inbred kindred","volume":"28","author":"Vine, D.T.; Yarkoni, S.; Cohen, M.M.","year":"1976","unstructured":"Vine DT, Yarkoni S, Cohen MM. Inversion homozygosity of chromosome No 9 in a highly inbred kindred. Am J Hum Genet 1976;28:203-7.","journal-title":"Am J Hum Genet"},{"key":"ref_9","first-page":"117","article-title":"Paracentric inversion in the short arm of chromosome 1. Hum Genet","volume":"49","author":"Deroover, J.; Fryns, J.P.; Haegeman, J.; Van Den Berghe, H.","year":"1979","unstructured":"Deroover J, Fryns JP, Haegeman J, Van Den Berghe H. Paracentric inversion in the short arm of chromosome 1. 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Hum Genet 1980;54:413-6.","journal-title":"Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1399-0004.1982.tb01421.x","article-title":"A familial paracentric inversion in the short arm of chromosome 3: a case report","volume":"22","author":"Peters-Slough, M.F.; Planteydt, H.T.; Timmerman, M.J.; vd Vooren, M.J.","year":"1982","unstructured":"Peters-Slough MF, Planteydt HT, Timmerman MJ, vd Vooren MJ. A familial paracentric inversion in the short arm of chromosome 3: a case report. Clin Genet 1982;22:102-4.","journal-title":"Clin Genet"},{"key":"ref_15","first-page":"74","article-title":"Paracentric inversion: probable mechanism for an interstitial 3p deletion in a patient with multiple anomalies","volume":"21","author":"Kelly, T.E.; Wyandt, H.; Kasprzak, R.","year":"1979","unstructured":"Kelly TE, Wyandt H, Kasprzak R, et al. Paracentric inversion: probable mechanism for an interstitial 3p deletion in a patient with multiple anomalies. 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Prenatal Diagnosis 1981;1:81-4.","journal-title":"Prenatal Diagnosis"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1136\/jmg.20.3.231","article-title":"Paracentric inversions: two new familial eases, inv(7)(q22q11) and inv(l1)(q23ql3)","volume":"20","author":"Orye, E.; Van Bever, H.","year":"1983","unstructured":"Orye E, Van Bever H. Paracentric inversions: two new familial eases, inv(7)(q22q11) and inv(l1)(q23ql3). J Med Genet 1983;20:231.","journal-title":"J Med Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00270393","article-title":"Paracentric inversion of a human chromosome 7","volume":"31","author":"Shimba, H.; Ohtaki, K.; Tanabe, K.; Sofuni, T.","year":"1976","unstructured":"Shimba H, Ohtaki K, Tanabe K, Sofuni T. Paracentric inversion of a human chromosome 7. 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Cytogenet Cell Genet 1981;31:1-32.","journal-title":"Cytogenet Cell Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.6.407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:45:06Z","timestamp":1759722306000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.6.407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,12]]},"references-count":39,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1984,12,1]]},"published-print":{"date-parts":[[1984,12]]}},"alternative-id":["10.1136\/jmg.21.6.407"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.6.407","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,12]]}}}