{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:40:01Z","timestamp":1759725601282,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,4]]},"abstract":"<jats:p>A female infant with severe mental retardation, general hypotonicity, and a history of generalised oedema, cyanosis, heart murmur, and nystagmus in the first days of life was found to have both a translocation and a deletion. Her karyotype was 46,XX,del(21)t(18;21)(18p ter leads to 18q11::21q21 leads to 21qter;21pter leads to 21q11::18q11 leads to 18q ter). The karyotype of both parents was normal. The proposita is the result of a three break point exchange and is monosomic for part of the dark band q11 q21 of chromosome 21. It is suggested that in cases with mental retardation and apparent balanced de novo reciprocal translocation a small undetected deletion in one of the chromosomes involved in the translocation could explain the mental retardation.<\/jats:p>","DOI":"10.1136\/jmg.15.2.152","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"152-154","source":"Crossref","is-referenced-by-count":3,"title":["De novo simultaneous reciprocal translocation and deletion."],"prefix":"10.1136","volume":"15","author":[{"given":"K","family":"Fries","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Mundel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/249164a0","article-title":"Correlation between euploid structural chromosome rearrangements arid mental subnormality in humans","volume":"249","author":"Jacobs, P.A.","year":"1974","unstructured":"Jacobs, P. A. (1974). Correlation between euploid structural chromosome rearrangements arid mental subnormality in humans. Nature, 249, 164-165.","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/oxfordjournals.bmb.a071331","article-title":"Prenatal diagnosis of chromosome disorders","volume":"32","author":"Laurence, K.M.; Gregory, P.","year":"1976","unstructured":"Laurence, K. M., and Gregory, P. (1976). Prenatal diagnosis of chromosome disorders. British Medical Bulletin, 32, 9-15.","journal-title":"British Medical Bulletin"},{"key":"ref_3","first-page":"10","article-title":"Autosomal reciprocal translocations and 13\/14 translocations: a population study","author":"Nielsen, J.; Rasmussen, K.","year":"1976","unstructured":"Nielsen, J., and Rasmussen, K. (1976). Autosomal reciprocal translocations and 13\/14 translocations: a population study. Clinical Genetics, 10,161-177.","journal-title":"Clinical Genetics"},{"key":"ref_4","first-page":"2","article-title":"A rapid banding technique for human chromosome","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosome. Lancet, 2,971-972.","journal-title":"Lancet"},{"key":"ref_5","first-page":"9","article-title":"Apparent G-monosomy, G-deletion and incomplete Down's syndrome in a single family","author":"Schmidt, R.; Mundel, G.; Rosenblatt, M.; Bat-Miriam Katznelson, M.","year":"1972","unstructured":"Schmidt, R., Mundel, G., Rosenblatt, M., and Bat-Miriam Katznelson, M. (1972). Apparent G-monosomy, G-deletion and incomplete Down's syndrome in a single family. Journal ofMedical Genetics, 9,457-461.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_6","first-page":"241","article-title":"The mongoloid phenotype in man is due to trisomy of the distal pale G. band of chromosome 21","volume":"5","author":"Wahrman, J.; Goitein, R.; Richler, C.; Goldman, B.; Akstein, E.; Chaki, R.","year":"1976","unstructured":"Wahrman, J., Goitein, R., Richler, C., Goldman, B., Akstein, E., and Chaki, R. (1976). The mongoloid phenotype in man is due to trisomy of the distal pale G. band of chromosome 21. Chromosomes Today, 5, 241-248.","journal-title":"Chromosomes Today"},{"key":"ref_7","unstructured":"Physical examination yielded the characteristic anomalies of hypertelorism, epicanthic folds, downward-slanting palpebral fissures, moon-shaped facies, and an undescended left testis. In addition, a peculiar high-pitched cry was noted, evoking the diagnosis of a 'cri du chat' syndrome. Using conventional staining techniques, the karyotype in 1968 showed that the two no. 5 chromosomes were morphologically normal but there was a translocation between a no. 2 and a group D chromosome. Parental karyotypes were normal.","article-title":"Physical examination yielded the characteristic anomalies of hypertelorism, epicanthic folds, downward-slanting palpebral fissures, moon-shaped facies, and an undescended left testis. In addition, a peculiar high-pitched cry was noted, evoking the diagnosis of a 'cri du chat' syndrome. Using conventional staining techniques, the karyotype in 1968 showed that the two no. 5 chromosomes were morphologically normal but there was a translocation between a no. 2 and a group D chromosome. Parental karyotypes were normal"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.2.152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:18:46Z","timestamp":1759724326000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.2.152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1978,4,1]]},"published-print":{"date-parts":[[1978,4]]}},"alternative-id":["10.1136\/jmg.15.2.152"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.2.152","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,4]]}}}