{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:45:41Z","timestamp":1764171941236,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,7]]},"abstract":"<jats:p>A family is described in which the mother's four pregnancies resulted in one spontaneous abortion, one healthy boy, and a male and female sib with developmental delay and multiple minor dysmorphic features. Chromosome analysis showed a large pericentric inversion of chromosome 10, involving the region between bands p15.1 and q25.2, in the father and the healthy son: 46,XY,inv(10) (p15.1q25.2), and an unbalanced karyotype in the two affected sibs: rec(10),dup p,inv(10) (p15.1q25.2). The unbalanced chromosome has been produced by meiotic recombination between the inversion chromosome and its normal homologue. The two affected sibs have partial duplication of 10p and partial deficiency of 10q, and share a large number of clinical features, several of which have previously been described in both of these chromosome imbalances. We believe this to be the largest pericentric inversion of chromosome 10 reported to have produced recombinant offspring.<\/jats:p>","DOI":"10.1136\/jmg.26.7.461","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"461-464","source":"Crossref","is-referenced-by-count":7,"title":["A case of two inversion (10) recombinants in a family."],"prefix":"10.1136","volume":"26","author":[{"given":"P","family":"Roberts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Sills","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1126\/science.1257746","article-title":"High resolution of human chromosomes","volume":"191","author":"Yunis, J.J.","year":"1976","unstructured":"Yunis JJ. High resolution of human chromosomes. Science 1976;191:1268-70.","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/BF00271171","article-title":"Duplication deficiency as the result of meiotic segregation of a maternal inv(10)","volume":"57","author":"Yunis, E, Torres de Caballero 0","year":"1981","unstructured":"Yunis E, Torres de Caballero 0. Duplication deficiency as the result of meiotic segregation of a maternal inv(10). Hum Genet 1981;57:71-4.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1159\/000130460","article-title":"Inversion pericentrique, inv(10), chez la mere et aneusomie de recombinaison, inv(10), rec(10), chez son fils","volume":"12","author":"Dutrillaux, B.; Laurent, C.; Robert, J.M.; Lejeune, J.","year":"1973","unstructured":"Dutrillaux B, Laurent C, Robert JM, Lejeune J. Inversion pericentrique, inv(10), chez la mere et aneusomie de recombinaison, inv(10),rec(10), chez son fils. Cytogenet Cell Genet 1973;12:245-53.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1136\/jmg.21.4.317","article-title":"Familial pericentric inversion(10) and its effect on two offspring","volume":"21","author":"Rodriguez, M.T.; Martin, M.J.; Abrisqueta, J.A.","year":"1984","unstructured":"Rodriguez MT, Martin MJ, Abrisqueta JA. Familial pericentric inversion(10) and its effect on two offspring. J Med Genet 1984;21:317-9.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.18.1.59","article-title":"Trisomy 10p produced by recombination involving maternal inversion(10)(pllq26)","volume":"18","author":"Lansky-Shafer, S.C.; Daniel, W.L.; Ruiz, L.","year":"1981","unstructured":"Lansky-Shafer SC, Daniel WL, Ruiz L. Trisomy 10p produced by recombination involving maternal inversion(10)(pllq26). J Med Genet 1981;18:59-75.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"235","article-title":"Partial trisomy 10p in two generations","volume":"41","author":"Lurie, I.W.; Lazjuk, G.I.; Gurevich, D.B.; Kravtzova, G.I.; Nedzved, M.K.; Shved, I.A.","year":"1978","unstructured":"Lurie IW, Lazjuk GI, Gurevich DB, Kravtzova GI, Nedzved MK, Shved IA. Partial trisomy 10p in two generations. Hum Genet 1978;41:235-41.","journal-title":"Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.1320200122","article-title":"Deletions of the long arm of chromosome 10","volume":"20","author":"Shapiro, S.D.; Hansen, K.L.; Pasztor, L.M.","year":"1985","unstructured":"Shapiro SD, Hansen KL, Pasztor LM, et al. Deletions of the long arm of chromosome 10. Am J Med Genet 1985;20:181-96.","journal-title":"Am J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1136\/jmg.24.3.185","article-title":"Behaviour disorder in monosomy 10qter","volume":"24","author":"Mehta, L.; Duckett, D.P.; Young, I.D.","year":"1987","unstructured":"Mehta L, Duckett DP, Young ID. Behaviour disorder in monosomy 10qter. J Med Genet 1987;24:185-6.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.7.461","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:39:36Z","timestamp":1760729976000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.7.461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,7]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1989,7,1]]},"published-print":{"date-parts":[[1989,7]]}},"alternative-id":["10.1136\/jmg.26.7.461"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.7.461","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,7]]}}}