{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:10:42Z","timestamp":1760771442874,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q22::22q11 leads to 22qter). Despite partial monosomy for the proximal segment of 22 and trisomy for proximal 21, the fetus did not have gross external abnormalities, but several internal malformations were found. To our knowledge, this is the first time that this unbalanced karyotype has been described.<\/jats:p>","DOI":"10.1136\/jmg.18.5.383","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"383-385","source":"Crossref","is-referenced-by-count":0,"title":["Fetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally."],"prefix":"10.1136","volume":"18","author":[{"given":"A M","family":"Migliorini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Coco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T C","family":"De Negrotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Sanchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Castineyra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,10,1]]},"reference":[{"key":"ref_1","first-page":"99","article-title":"Down's syndrome. The possibility of a pathogenetic segment on chromosome No 21. Hum Genet","volume":"21","author":"Niebuhr, E.","year":"1974","unstructured":"Niebuhr E. Down's syndrome. The possibility of a pathogenetic segment on chromosome No 21. Hum Genet 1974;21:99-101."},{"key":"ref_2","first-page":"\"478","article-title":"Familial Down syndrome due to (10; 21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21","volume":"27","author":"Williams, J.D.; Summitt, R.L.; Martens, P.R.; Krimbell, G.R.H.","year":"1975","unstructured":"Williams JD, Summitt RL, Martens PR, Krimbell GRH. Familial Down syndrome due to (10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet 1975;27:478-85. Raoul 0, Dutrillaux B, Carpentier S, Mallet R, Lyuine J. Trisomies partielles du chromosome 21 par translocation maternelle t(l5,21)(q26.2;q21). Ann Genet (Paris) 1976; 19:187-90.","journal-title":"Am J Hum Genet; Trisomies partielles du chromosome 21 par translocation maternelle t(l5,21)(q26.2; q21"},{"key":"ref_3","first-page":"241","article-title":"The mongoloid phenotype in man is due to trisomy of the distal pale G-band of chromosome No 21","volume-title":"Chromosomes Today","volume":"5","author":"Wahrman, J.; Goiten, R.; Richler, C.; Goldman, B.; Akstein, E.; Chaki, C.R.","year":"1976","unstructured":"Wahrman J, Goiten R, Richler C, Goldman B, Akstein E, Chaki CR. The mongoloid phenotype in man is due to trisomy of the distal pale G-band of chromosome No 21. Chromosomes Today 1976;5:241-8."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1399-0004.1977.tb01301.x","article-title":"Partial trisomies of chromosome 21 in man; two new observations due to translocations","volume":"11","author":"Pfeiffer, R.A.; Kessel, E.K.; Soer, K.H.","year":"1977","unstructured":"Pfeiffer RA, Kessel EK, Soer KH. Partial trisomies of chromosome 21 in man; two new observations due to translocations 19;21 and 4;21. Clin Genet 1977;11:207-13.","journal-title":"Clin Genet"},{"key":"ref_5","first-page":"193","article-title":"ring chromosome; identification by controlled heating","volume":"16","author":"Stoll, C.; Rohmer, A.; Sauvager, P.","year":"1973","unstructured":"Stoll C, Rohmer A, Sauvager P. 22 (r) ring chromosome; identification by controlled heating. Ann Genet (Paris) 1973; 16:193-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","first-page":"111","article-title":"Le syndrome t(22). A propos de quatre nouvelles observations","volume":"19","author":"Rethore, M.O.; Noel, B.; Couturier, J.; Prieur, M.; Lafourcade, J.; Lejeune, J.","year":"1976","unstructured":"Rethore MO, Noel B, Couturier J, Prieur M, Lafourcade J, Lejeune J. Le syndrome t(22). A propos de quatre nouvelles observations. Ann Genet (Paris) 1976;19:111-7.","journal-title":"Ann Genet (Paris)"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1136\/jmg.10.4.384","article-title":"Segregating reciprocal (4; 21)(q21; 21) translocation with proposita trisomic for parts of 4q and 21","volume":"10","author":"de la Chapelle A; M, Koivisto; J, Schroder","year":"1973","unstructured":"de la Chapelle A, Koivisto M, Schroder J. Segregating reciprocal (4;21)(q21;21) translocation with proposita trisomic for parts of 4q and 21. J Med Genet 1973;10: 384-9.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.5.383","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:28:09Z","timestamp":1760768889000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.5.383"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,10]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1981,10,1]]},"published-print":{"date-parts":[[1981,10]]}},"alternative-id":["10.1136\/jmg.18.5.383"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.5.383","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,10]]}}}