{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076533,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,11]]},"abstract":"<jats:p>It has been suggested that pericentric inversions of chromosome 2 increase the risk for spontaneous abortion but do not increase the risk for unbalanced recombinant offspring. We report our experience of a familial pericentric inversion of chromosome 2 resulting in two unbalanced recombinant offspring. Both subjects have 46,XX,rec(2),dup q,inv(2)(p25q35).<\/jats:p>","DOI":"10.1136\/jmg.26.11.725","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"725-729","source":"Crossref","is-referenced-by-count":10,"title":["Abnormal chromosome complement resulting from a familial inversion of chromosome 2."],"prefix":"10.1136","volume":"26","author":[{"given":"S","family":"Richter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Lockwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Lockwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Allanson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,11,1]]},"reference":[{"key":"ref_1","first-page":"184","article-title":"Theoretical study of inversions affecting human chromosomes","volume":"29","author":"Dutrillaux, B.; Prieur, M.; Aurias, A.","year":"1986","unstructured":"Dutrillaux B, Prieur M, Aurias A. Theoretical study of inversions affecting human chromosomes. Ann Genet (Paris) 1986;29:184-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/BF00278814","article-title":"The significance of pericentric inversions of chromosome 2","volume":"72","author":"Djalali, M.; Steinbach, P.; Bullerdiek, J.; Holmes-Siedle, M.; Verschraegen-Spae, M.R.; Smith, A.","year":"1986","unstructured":"Djalali M, Steinbach P, Bullerdiek J, Holmes-Siedle M, Verschraegen-Spae MR, Smith A. The significance of pericentric inversions of chromosome 2. Hum Genet 1986;72:32-6.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1136\/jmg.15.5.388","article-title":"Pericentric inversions inv(2)(pllql3) and inv(2) (pl3ql 1) in two unrelated families","volume":"15","author":"Phillips, R.B.","year":"1978","unstructured":"Phillips RB. Pericentric inversions inv(2)(pllql3) and inv(2) (pl3ql 1) in two unrelated families. J Med Genet 1978;15:388-90.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"402","article-title":"Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p1 1-.q13) segment of chromosomc 2. Clin Genet","volume":"18","author":"Baccichetti, C.; Lenzini, E.; Peserico, A.; Tenconi, R.","year":"1980","unstructured":"Baccichetti C, Lenzini E, Peserico A, Tenconi R. Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p1 1-.q13) segment of chromosomc 2. Clin Genet 1980;18:402-7."},{"key":"ref_5","first-page":"161","article-title":"Familial pericentric inversion of chromosome 2","volume":"29","author":"Matteri, M.S.; Pinheiro, C.E.A.; Erdtmann, B.; Flores, R.Z.; Salzano, F.M.","year":"1981","unstructured":"Matteri MS, Pinheiro CEA, Erdtmann B, Flores RZ, Salzano FM. 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Familial t(X;2)(p223;q323) with partial trisomy 2q and male and fcmale balanced carriers. Hum Genet 1977;37:97-104.","journal-title":"Hum Genet; chromosomal and malformation syndromes"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ajmg.1320040103","article-title":"Distal 2q duplication: report of two familial cases and an attempt to define a syndrome","volume":"4","author":"Zankl, M.; Schwanitz, G.; Schmid, P.","year":"1979","unstructured":"Zankl M, Schwanitz G, Schmid P. et al. Distal 2q duplication: report of two familial cases and an attempt to define a syndrome. Am J Med Genet 1979;4:5-16.","journal-title":"Am J Med Genet"},{"key":"ref_15","first-page":"13","article-title":"Sept cas de trisomie 2q34-s2qter par transmission familiale d'une translocation t(2; 8)(q34; p23)","volume":"21","author":"Laurent, C.; Biemont, M.C.; Guibaud, P.","year":"1978","unstructured":"Laurent C, Biemont MC, Guibaud P, et al. 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