{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:01Z","timestamp":1760769601584,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:p>A 10-year-old male with a recombinant (13)dup q chromosome is reported. The recombinant chromosome originated from a maternal pericentric inversion which was present in two of his four normal sibs. A segregation analysis of 60 pregnancies from which one of the parents was a carrier of inv(13) showed a significant predominance of males among the viable offspring.<\/jats:p>","DOI":"10.1136\/jmg.19.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"227-229","source":"Crossref","is-referenced-by-count":9,"title":["Familial pericentric inversion of chromosome 13 resulting in duplication 13q22\u2192qter"],"prefix":"10.1136","volume":"19","author":[{"given":"M","family":"Habedank","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF00284602","article-title":"Partial trisomy 13q21 -qter de novo due to a recombinant chromosome rec(13)dup q","volume":"52","author":"Habedank, M.","year":"1979","unstructured":"Habedank M. Partial trisomy 13q21 -qter de novo due to a recombinant chromosome rec(13)dup q. Hum Genet 1979;52:91-9.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1469-1809.1956.tb01376.x","article-title":"Patau's syndrome with D1 duplication-deficiency derived from a maternal D group pericentric inversion","volume":"35","author":"Parrington, J.M.; Edwards, J.H.","year":"1971","unstructured":"Parrington JM, Edwards JH. Patau's syndrome with D1 duplication-deficiency derived from a maternal D group pericentric inversion. Ann Hum Genet 1971;35:35-45.","journal-title":"Ann Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/jmg.9.4.413","article-title":"Pericentric inversion of chromosome no 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals","volume":"9","year":"1972","unstructured":"Hauksd6ttir H, Halld6rsson S, Jensson 0, Mikkelsen M, McDermott A. Pericentric inversion of chromosome no 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals. JMed Genet 1972;9:413-21.","journal-title":"JMed Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0022-3476(73)80164-7","article-title":"Duplication\/deficiency product of a pericentric inversion in man: a cause of D1 trisomy syndrome","volume":"82","author":"Taysi, K.; Bobrow, M.; Balci, S.; Madan, K.; Atasu, M.; Say, B.","year":"1973","unstructured":"Taysi K, Bobrow M, Balci S, Madan K, Atasu M, Say B. Duplication\/deficiency product of a pericentric inversion in man: a cause of D1 trisomy syndrome. J Pediatr 1973; 82:263-8.","journal-title":"J Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1001\/archpedi.1974.02110270091019","article-title":"Trisomy for the distal segment of chromosome 13","volume":"128","year":"1974","unstructured":"Escobar JI, Sanchez 0, Yunis JJ. Trisomy for the distal segment of chromosome 13. Am J Dis Child 1974;128: 217-20.","journal-title":"Am J Dis Child"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.9.1.105","article-title":"Inherited pericentric inversion of a group D (13-15) chromosome","volume":"9","author":"Surana, R.B.; Conen, P.E.","year":"1972","unstructured":"Surana RB, Conen PE. Inherited pericentric inversion of a group D (13-15) chromosome. J Med Genet 1972;9: 105-10.","journal-title":"J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1111\/j.1469-1809.1978.tb01898.x","article-title":"Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over","volume":"41","author":"Koske-Westphal, T.; Pruszak-Seel, R.E.; Niss, R.; Passarge, E.","year":"1978","unstructured":"Koske-Westphal T, Pruszak-Seel RE, Niss R, Passarge E. Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over. Ann Hum Genet 1978;41:315-22.","journal-title":"Ann Hum Genet"},{"article-title":"This work was partially supported by The Birth Defects","year":"1981","key":"ref_8","unstructured":"*This work was partially supported by The Birth Defects Institute, New York State, Department of Health. Received for publication 16 May 1981."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.3.227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:02:20Z","timestamp":1760767340000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.3.227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,6]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1982,6,1]]},"published-print":{"date-parts":[[1982,6]]}},"alternative-id":["10.1136\/jmg.19.3.227"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.3.227","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,6]]}}}