{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T00:38:32Z","timestamp":1778459912618,"version":"3.51.4"},"reference-count":28,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:p>A pericentric inversion in chromosome 1 of a severely oligospermic human male is reported. Pachytene analysis in microspread preparations shows an absence of full loop formation in the inversion bivalent and only the rare occurrence of a partial loop. The majority of cells exhibit extensive asynapsis across the inverted segment, or a normal looking synaptonemal complex indicative of heterologous pairing along the length of the inversion. Crossing over is reduced in the No 1 bivalent with only a rare chiasma being seen in the inverted region at metaphase I. Males heterozygous for a pericentric inversion in chromosome 1 appear to be at severe risk for infertility brought about by spermatogenic disturbance. The dearth of full loops at prophase in this patient, and in other pericentric inversion cases studied both in man and other species, raises the question of whether recombinant offspring might be rarer than anticipated on a theoretical basis owing to asynapsis or early heterologous synapsis across inverted segments.<\/jats:p>","DOI":"10.1136\/jmg.24.6.325","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"325-334","source":"Crossref","is-referenced-by-count":46,"title":["Pericentric inversion in human chromosome 1 and the risk for male sterility."],"prefix":"10.1136","volume":"24","author":[{"given":"A C","family":"Chandley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"McBeath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Speed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Yorston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T B","family":"Hargreave","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1007\/BF00278718","article-title":"Perieentric inversion of chromosome I in three sterile brothers","volume":"58","author":"Giraldo, A.; Campos, Silva E.Martinez I.; C, Guzman; J.","year":"1981","unstructured":"Giraldo A, Silva E. Martinez I. Campos C, Guzman J. Perieentric inversion of chromosome I in three sterile brothers. Hum Genet 1981;58:226-7.","journal-title":"Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmg.19.4.303","article-title":"Pericentric inversion of ehromosome 1 in an azoospermic man","volume":"19","author":"Toth, A.; Gaal, M.; Sara, G.; Laszlo, J.","year":"1982","unstructured":"Toth A, Gaal M, Sara G, Laszlo J. Pericentric inversion of ehromosome 1 in an azoospermic man. J Med Genet 1982;19:303-5.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/BF00286593","article-title":"Familial inv(1)(p35-00q21-3) associated with aizoospermia","volume":"66","author":"Rivera, H.; Cantu, Alvarez-Arratia M.C.Moller M.Diaz M.; J.M.","year":"1984","unstructured":"Rivera H, Alvarez-Arratia MC. Moller M. Diaz M. Cantu JM. Familial inv(1)(p35-00q21-3) associated with aizoospermia. Humn Genet 1984;66:165-7.","journal-title":"Humn Genet"},{"key":"ref_4","first-page":"93","article-title":"Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions","volume":"1985","author":"Guichaoua, M.R.; Delafontaine, D.; Taurelle, R.; Taillemite, J.L.; Morazzani, M.R.; Luciani, J.M.","unstructured":"Guichaoua MR, Delafontaine D, Taurelle R, Taillemite JL, Morazzani MR, Luciani JM. Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions. Chromnoso,na 1985:93:313-21).","journal-title":"Chromnoso, na"},{"issue":"72","key":"ref_5","first-page":"148","article-title":"Synapsis and synaptic adjustment in an infertile human male heterozygous for a perieentric inversion in ehromosome 1","volume":"1986","unstructured":"Gabriel-Robez 0, Ratomponirina C. Rumpler Y, Lc Marec B. Lueiani M, Guiehaoua MR. Synapsis and synaptic adjustment in an infertile human male heterozygous for a perieentric inversion in ehromosome 1. Hum Getnet 1986:72:148-52.","journal-title":"Hum Getnet"},{"key":"ref_6","first-page":"9","article-title":"Familial inv(l)(p36 3ql2) associated with sterility","volume":"23","author":"Barros, A.; Tavares, M.C.; Gomes, M.P.; Tavares, M.P.","year":"1986","unstructured":"Barros A, Tavares MC, Gomes MP, Tavares MP. Familial inv(l)(p36 3ql2) associated with sterility. J Med Geniet 1986;23:9(-1.","journal-title":"J Med Geniet"},{"key":"ref_7","first-page":"31","article-title":"Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentrie inversion inv( 1 )(p32q42) regular loop formation but defective synapsis including a possible inter-chromosomal effect. Hum Genet (in press). Sumner AT, Evans IlJ, Buckland RA. 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Cytologicial assessment of mciotic exchange in a human male with a pericentric inversion of chromosome No 4. C(Ytogeniet C'ell Genet 1975; 14:120-39."},{"key":"ref_15","first-page":"369","article-title":"Cytogcnctic ind histological studics of testicular biopsics from subfcrtilc mcn with chromosomc anomaly","volume":"50","author":"K, Facd M.J.W.Lamont M.A.Baxbv","year":"1982","unstructured":"Facd MJW. Lamont MA. Baxbv K. Cytogcnctic ind histological studics of testicular biopsics from subfcrtilc mcn with chromosomc anomaly. J Med Geniet 1982;19:4'9-56. 21 Saadallah N, Ilult6n M. EM invcstigations of suirface spread synaptonemral compicxcs in a humain mallc cairricr of a pcriccntric invcrsion inv( 13)(pl2q 14): the rolc of hctcrosvnaipsis for spcrmatocytc survival. Atmii Humn Geniet 1986;50:369-83.","journal-title":"J Med Geniet; Saadallah N, Ilult6n M. 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Synaptoncmall complcx ainallysis of a periccntric invcrsion in chromosomc 2 of domestic fowl, Gallus do,ne.sticus. Cstogeniet Cell Gencet 1985;39:82-6.","journal-title":"Cstogeniet Cell Gencet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1111\/j.1399-0004.1976.tb00009.x","article-title":"Familial pcriccitric invcrsion of chromosomc 19. inv(l19)(pl3q13) with a notc on gcnetic counsclling of pcricentric invcrsion carricrs","volume":"10","author":"RF, Sutherland G.R.Gardiner Al Cartcr","year":"1976","unstructured":"Sutherland GR. Gardiner Al. Cartcr RF. Familial pcriccitric invcrsion of chromosomc 19. inv(l19)(pl3q13) with a notc on gcnetic counsclling of pcricentric invcrsion carricrs. Clin Genet 1976;10:54-9.","journal-title":"Clin Genet"},{"key":"ref_21","first-page":"1","article-title":"Pcricentric inversions. Problcms ind significincc for clinical gcnctics","volume":"68","author":"Kaiiscr, P.","year":"1984","unstructured":"Kaiiscr P. 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