{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:40Z","timestamp":1760747620892,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,12]]},"abstract":"<jats:p>The segregation of a balanced reciprocal (4;21)(q21;q21) translocation is described. The family was ascertained through a clinically abnormal proposita with an unbalanced karyotype 47,XX,+der(21),t(4;21)(q21;q21)mat. The proposita was trisomic for regions 4q2, 4q3, 21p, and 21q1. Symptoms that might be attributed to the partial trisomy for parts of 4q were narrow bird face with slanting forehead, prominent nasal bridge and small mandible, downward pointing corners of the mouth, deformed ears, palpebral ptosis, and bushy eyebrows. Similar symptoms occur in other trisomy and deletion syndromes.<\/jats:p>","DOI":"10.1136\/jmg.10.4.384","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"384-389","source":"Crossref","is-referenced-by-count":21,"title":["Segregating Reciprocal (4;21) (q21;q21) Translocation with Proposita Trisomic for Parts of 4q and 21"],"prefix":"10.1136","volume":"10","author":[{"given":"Albert De La","family":"Chapelle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maila","family":"Koivisto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jim","family":"Schr\u00f6der","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,12,1]]},"reference":[{"key":"ref_1","first-page":"215","article-title":"Identification of human chromosomes by DNA-binding fluorescent agents","volume":"30","author":"Caspersson, T.; Zech, L.; Johansson, C.; Modest, E.J.","year":"1970","unstructured":"Caspersson, T., Zech, L., Johansson, C., and Modest, E. J. (1970). Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma, 30, 215-227.","journal-title":"Chromosoma"},{"key":"ref_2","series-title":"Human Genetics. Proceedings of the Fourth International Congress of Human Genetics","first-page":"232","article-title":"Human population cytogenetics","author":"Jacobs, P.A.","year":"1972","unstructured":"Jacobs, P. A. (1972). Human population cytogenetics. In Human Genetics. Proceedings of the Fourth International Congress of Human Genetics, ed. by J. de Grouchy, F. J. G. Ebling, and I. W. Henderson, pp. 232-242. Excerpta Medica, Amsterdam."},{"issue":"7","key":"ref_3","first-page":"1","article-title":"Standardization in human cytogenetics. Birth Defects: Original Article","volume":"8","author":"Paris Conference","year":"1971","unstructured":"Paris Conference (1971). Standardization in human cytogenetics. Birth Defects: Original Article Series, 8, pt. 7, pp. 1-46, 1972. The National Foundation, New York.","journal-title":"Series; The National Foundation, New York."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_5","first-page":"54","article-title":"A familial 4\/5 reciprocal translocation resulting in partial trisomy B. American3ournal of Human","volume":"17","author":"Shaw, M.W.; Cohen, M.M.; Hildebrandt, H.M.","year":"1965","unstructured":"Shaw, M. W., Cohen, M. M., and Hildebrandt, H. M. (1965). A familial 4\/5 reciprocal translocation resulting in partial trisomy B. American3ournal of Human Genetics, 17, 54-70.","journal-title":"Genetics"},{"key":"ref_6","article-title":"In 1969, Francois made an extensive review of the subject showing that cryptophthalmos is not a localized malformaton but a syndrome characterized by cryptophthalmos, anomalies of the head, ears, nose, syndactyly, and genital abnormalities. Up to 1969 there were 43 cases reported in the world literature (Ide and Wollschlaeger, 1969). No chromosomal anomalies have been demonstrated, but parental consanguinity has been observed in 15 \u00b0 of the cases and it has therefore been","volume-title":"In the present paper we report two affected families from Bahia State in Brazil","year":"1969","unstructured":"In 1969, Francois made an extensive review of the subject showing that cryptophthalmos is not a localized malformaton but a syndrome characterized by cryptophthalmos, anomalies of the head, ears, nose, syndactyly, and genital abnormalities. Up to 1969 there were 43 cases reported in the world literature (Ide and Wollschlaeger, 1969). No chromosomal anomalies have been demonstrated, but parental consanguinity has been observed in 15 \u00b0 of the cases and it has therefore been suggested that autosomal recessive inheritance is likely (Frangois, 1969). In the present paper we report two affected families from Bahia State in Brazil."},{"unstructured":"Congenital fusion of eyelids was described by Zehender and Manz (1872) as an isolated anomaly.","article-title":"Congenital fusion of eyelids was described by Zehender and Manz (1872) as an isolated anomaly","key":"ref_7"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.4.384","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:27:34Z","timestamp":1760725654000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.4.384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,12]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1973,12,1]]},"published-print":{"date-parts":[[1973,12]]}},"alternative-id":["10.1136\/jmg.10.4.384"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.4.384","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,12]]}}}