{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:25:02Z","timestamp":1760783102362,"version":"build-2065373602"},"reference-count":25,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,10]]},"abstract":"<jats:p>As far as the authors are aware this is the first report of the insertion of an active NOR into a non-acrocentric chromosome, although a simple translocation involving an active NOR has been previously recorded. More specifically, this case involves the non-reciprocal translocation of the centromere and stalk of an acrocentric into 12p, generating an apparently stable dicentric chromosome. The insertion is seen in three generations and may be relatively genetically benign. The abnormality is fully described by G and sequential C banding, DA\/DAPI fluorescence, kinetochore staining, and Ag-NOR staining, and the findings are discussed in the light of the limited published reports of insertion in man.<\/jats:p>","DOI":"10.1136\/jmg.21.5.379","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"379-384","source":"Crossref","is-referenced-by-count":15,"title":["A familial insertion involving an active nucleolar organiser within chromosome 12."],"prefix":"10.1136","volume":"21","author":[{"given":"J L","family":"Watt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Couzin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Lloyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G S","family":"Stephen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"McKay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,10,1]]},"reference":[{"key":"ref_1","first-page":"359","article-title":"A cytogenetic survey of 11,680 newborn infants","volume":"37","author":"Jacobs, P.A.; Melville, M.; Ratcliffe, S.; Keay, A.J.; Syme, J.","year":"1974","unstructured":"Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hu,ni Genet 1974;37:359-76."},{"issue":"1","key":"ref_2","first-page":"129","article-title":"chromosome translocation in Mits mutsculhs","volume":"1962","unstructured":"chromosome translocation in Mits mutsculhs. Cytogenetics 1962;1:129-40.","journal-title":"Cytogenetics"},{"key":"ref_3","first-page":"92","article-title":"An interstitial translocation: chromosome No lp to 4q","volume":"ii:","author":"Gray, J.E.; Syrett, J.E.; Ritchie, K.M.; Elliot, W.D.","year":"1972","unstructured":"Gray JE, Syrett JE, Ritchie KM, Elliot WD. An interstitial translocation: chromosome No lp to 4q. 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Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet 1978;15: 382-7.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"231","article-title":"Familial insertional translocation","volume":"ii:","author":"Grace, E.; Sutherland, G.R.; Bain, A.D.","year":"1972","unstructured":"Grace E, Sutherland GR, Bain AD. Familial insertional translocation. Lancet 1972;ii:231.","journal-title":"Lancet"},{"key":"ref_7","first-page":"159","article-title":"Trisomie pour la partie distale due bras court du chromosome 3 chez trois germains. Premier example d'insertion chromosomique","volume":"15","author":"Rethor6, M.O.; Lejeune, J.; Carpentier, S.","year":"1972","unstructured":"Rethor6 MO, Lejeune J, Carpentier S. Trisomie pour la partie distale due bras court du chromosome 3 chez trois germains. Premier example d'insertion chromosomique: ins (7;3)(q31;p2lp26). 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Clin Genet 1974; 5:428-32.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.11.4.353","article-title":"Familial mental retardation in a family with an inherited chromosome rearrangement","volume":"11","author":"Chudley, A.E.; Bauder, F.; Ray, M.; McAlpine, P.J.; Pena, S.D.J.; Hamerton, J.L.","year":"1974","unstructured":"Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL. Familial mental retardation in a family with an inherited chromosome rearrangement. J Med Genet 1974;11:353-63.","journal-title":"J Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1399-0004.1974.tb01661.x","article-title":"Complex five-break rearrangement","volume":"5","author":"Fitzgerald, M.G.","year":"1974","unstructured":"Fitzgerald MG. Complex five-break rearrangement. 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