{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:40:54Z","timestamp":1759689654754,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,10]]},"abstract":"<jats:p>A patient with Down's syndrome was found to have 47,XX,+18\/47,XX,+21 mosaicism. Chromosome 18 trisomy was found only in 18% of lymphocytes and not in skin fibroblasts. A likely interpretation is double nondisjunction in a single lymphocyte precursor of a trisomy 21 embryo. A brief review of other cases of mitotic multiple nondisjunction and double aneuploid mosiacism is presented.<\/jats:p>","DOI":"10.1136\/jmg.15.5.395","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"395-398","source":"Crossref","is-referenced-by-count":5,"title":["Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction."],"prefix":"10.1136","volume":"15","author":[{"given":"M B","family":"Jenkins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R L","family":"Kriel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Barnwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,10,1]]},"reference":[{"key":"ref_1","first-page":"211","article-title":"Trisomie partielie 18q par translocation familiale t(l8q-; 13q+)","volume":"233","author":"Castel, Y.; Riviere, D.; Nawrocki, T.; Le Fur, J.-M.; Toudic, L.","year":"1975","unstructured":"Castel, Y., Riviere, D., Nawrocki, T., Le Fur, J-M., and Toudic, L. (1975). Trisomie partielie 18q par translocation familiale t(l8q-;13q+). Lyon Medical, 233, 211-217.","journal-title":"Lyon Medical"},{"key":"ref_2","first-page":"189","article-title":"Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations","volume":"24","author":"Francke, U.","year":"1972","unstructured":"Francke, U. (1972). Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. American Journal ofHuman Genetics, 24, 189-213.","journal-title":"American Journal ofHuman Genetics"},{"issue":"371-374","key":"ref_3","article-title":"An extra small submetacentric chromosome: possible partial trisomy 18","volume":"19","author":"Fujita, K.; Fujita, H.M.","year":"1974","unstructured":"Fujita, K., and Fujita, H. M. (1974). An extra small submetacentric chromosome: possible partial trisomy 18. Japanese Journal of Huinani Genetics, 19,371-374.","journal-title":"Japanese Journal of Huinani Genetics"},{"issue":"47-5","key":"ref_4","first-page":"1","article-title":"Sur un cas 47, XY(?18q-)+","volume":"13","author":"Lejeune, J.; Berger, R.; Rethore, M.D.; Attal, C.","year":"1970","unstructured":"Lejeune, J., Berger, R., Rethore, M. D., and Attal, C. (1970). Sur un cas 47,XY(?18q-)+. Annales de Genetique, 13,47-5 1.","journal-title":"Annales de Genetique"},{"issue":"223-24","key":"ref_5","first-page":"1","article-title":"Modification of the expression of the ABO locus in a subject with karyotype 47, XY,(?","volume":"22","author":"Marcelli, A.; Benajam, A.; Poirier, J.C.; Dausset, J.; Rethore, M.D.; Prieur, M.; Lejeune, J.","year":"1974","unstructured":"Marcelli, A., Benajam, A., Poirier, J. C., Dausset, J., Rethore, M. D., Prieur, M., and Lejeune, J. (1974). Modification of the expression of the ABO locus in a subject with karyotype 47,XY,(? 18q-)+. Humangenetik, 22, 223-24 1."},{"key":"ref_6","first-page":"462467","article-title":"Trisomy 18 syndrome caused by translocation or isochromosome formation","volume":"9","author":"Muller, H.; Buhler, E.M.; Signer, E.; Egli, F.; Stalder, G.R.","year":"1972","unstructured":"Muller, H., Buhler, E. M., Signer, E., Egli, F., and Stalder, G. R. (1972). Trisomy 18 syndrome caused by translocation or isochromosome formation. Journal of Medical Genetics, 9, 462467.","journal-title":"Journal of Medical Genetics"},{"key":"ref_7","first-page":"827","article-title":"Trisomy for the distal half of chromosome no. 18: a report of two affected sibs","volume":"85","author":"Steele, M.W.; Pan, S.; Mickell, J.; Senders, V.","year":"1974","unstructured":"Steele, M. W., Pan, S., Mickell, J., and Senders, V. (1974). Trisomy for the distal half of chromosome no. 18: a report of two affected sibs. Journal ofPediatrics, 85, 827-829.","journal-title":"Journal ofPediatrics"},{"key":"ref_8","article-title":"Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosome 16 and 18","author":"Stern, L.M.; Murch, A.R.","year":"1975","unstructured":"Stern, L. M., and Murch, A. R. (1975). Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosome 16 and 18: 47,XY,der(18), t(16;18)(p12;q11)-"},{"key":"ref_9","first-page":"305","article-title":"mat. Journal ofMedical","volume":"12","unstructured":"mat. Journal ofMedical Genetics, 12, 305-307.","journal-title":"Genetics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1399-0004.1975.tb01515.x","article-title":"Origin of a small metacentric chromosome: familial and cytogenetic evidence","volume":"8","author":"Taylor, K.M.; Wolfinger, H.L.; Brown, M.G.; Chadwick, D.L.","year":"1975","unstructured":"Taylor, K. M., Wolfinger, H. L., Brown, M. G., and Chadwick, D. L. (1975). Origin of a small metacentric chromosome: familial and cytogenetic evidence. Clinical Genetics, 8, 364-369.","journal-title":"Clinical Genetics"},{"key":"ref_11","article-title":"Double trisomy, with or without mosaicism, has been reported in numerous instances. The majority of these cases has either full double trisomy (resulting from 2 nondisjunctions in gametogenesis or a single nondisjunction in a trisomic zygote) or, less often, mosaicism based on a single centromere missegregation in a trisomic zygote (Ebbin","author":"true","year":"1972","unstructured":"Double trisomy, with or without mosaicism, has been reported in numerous instances. The majority of these cases has either full double trisomy (resulting from 2 nondisjunctions in gametogenesis or a single nondisjunction in a trisomic zygote) or, less often, mosaicism based on a single centromere missegregation in a trisomic zygote (Ebbin et al., 1972; Wilson et al., 1974). The same chromosomes are usually involved that are most often found in the single trisomies. A single postzygotic nondisjunction of a sex chromosome can also give rise to double aneuploidy with multiple cell lines, exemplified by such trisomy\/monosomy mosaicisms as XO\/XXX, XO\/XY\/XXX, and XO\/XX\/XXX (Hamerton, 1971), or even double monosomy mosaicism (Weber et al., 1971).","journal-title":"et al; The same chromosomes are usually involved that are most often found in the single trisomies. A single postzygotic nondisjunction of a sex chromosome can also give rise to double aneuploidy with multiple cell lines, exemplified by such trisomy\/monosomy mosaicisms as XO\/XXX, XO\/XY\/XXX"},{"key":"ref_12","article-title":"We feel that the most probable events leading to the present instance of 'double' trisomy mosaicism are chromosome 18 nondisjunction and chromosome 21 anaphase lag (or nondisjunction) in a haematopoietic precursor of a trisomy 21 embryo. This seems likely because of the mother's advanced age at pregnancy, because trisomy 21 is much more prevalent in the patient's blood and is the only abnormality detected in skin, and because no normal or doubly trisomic cells were seen","author":"Abbo (1965) and Warren and Keith","year":"1967","unstructured":"We feel that the most probable events leading to the present instance of 'double' trisomy mosaicism are chromosome 18 nondisjunction and chromosome 21 anaphase lag (or nondisjunction) in a haematopoietic precursor of a trisomy 21 embryo. This seems likely because of the mother's advanced age at pregnancy, because trisomy 21 is much more prevalent in the patient's blood and is the only abnormality detected in skin, and because no normal or doubly trisomic cells were seen among 200 metaphases. Thus, two mitotic missegregations are probable. Since the trisomy 21 cell line is much more widely distributed, the patient has typical Down's syndrome. The report of Marks et al. (1967) describes a very similar case involving chromosomes 18 and 21, but only leucocyte chromosomes were analysed. Reports by Zellweger and Abbo (1965) and Warren and Keith (1971) describe similar situations involving D and E group chromosomes.","journal-title":"Marks et al; metaphases. Thus, two mitotic missegregations are probable. Since the trisomy 21 cell line is much more widely distributed, the patient has typical Down's syndrome. The report of"},{"key":"ref_13","unstructured":"The Table lists cases of double aneuploid mosaicism where more than one mitotic nondisjunction and\/or anaphase lag is the most likely explanation for the observed relatively complex mosaicisms. In addition, single aneuploid mosaics have been reported where two missegregations are required (Ribas-Mundo and Prats, 1965). Thus, it seems clear that multiple mitotic segregational errors occurring early in embryogenesis, while rare, should be expected from time to time, as should full double trisomies resulting from two segregational errors in gametogenesis.1 The separation of such sporadic occurrences from familial instances (discussed below) is not possible unless multiple cases are found in one family.","article-title":"The Table lists cases of double aneuploid mosaicism where more than one mitotic nondisjunction and\/or anaphase lag is the most likely explanation for the observed relatively complex mosaicisms. In addition, single aneuploid mosaics have been reported where two missegregations are required (Ribas-Mundo and Prats, 1965). Thus, it seems clear that multiple mitotic segregational errors occurring early in embryogenesis, while rare, should be expected from time to time, as should full double trisomies resulting from two segregational errors in gametogenesis.1 The separation of such sporadic occurrences from familial instances (discussed below) is not possible unless multiple cases are found in one family"},{"key":"ref_14","article-title":"The genetic control over disjunction has been reviewed by Hamerton","volume-title":"and is well known in Drosophila and in some plant species. In man, meiotic nondisjunction occurs in some families at an increased rate, as evidenced by the increase in risk of recurrence for trisomy (Mikkelsen and Stene, 1970), and by the much more frequent occurrence of double trisomies than is predicted by chance","year":"1971","unstructured":"The genetic control over disjunction has been reviewed by Hamerton (1971) and is well known in Drosophila and in some plant species. In man, meiotic nondisjunction occurs in some families at an increased rate, as evidenced by the increase in risk of recurrence for trisomy (Mikkelsen and Stene, 1970), and by the much more frequent occurrence of double trisomies than is predicted by chance (Hamerton et al., 1965)."},{"article-title":"Multiple errors in gametogenesis are best exemplified by multisomy X and Y cases; in fact, pentasomy X has been reported (Mulchay and Stevens, 1975), probably resulting from successive oogenic nondisjunction at both meioses","year":"1969","key":"ref_15","unstructured":"Multiple errors in gametogenesis are best exemplified by multisomy X and Y cases; in fact, pentasomy X has been reported (Mulchay and Stevens, 1975), probably resulting from successive oogenic nondisjunction at both meioses (Race and Sanger, 1969)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.5.395","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:22:51Z","timestamp":1759688571000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.5.395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,10]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1978,10,1]]},"published-print":{"date-parts":[[1978,10]]}},"alternative-id":["10.1136\/jmg.15.5.395"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.5.395","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,10]]}}}