{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:00:04Z","timestamp":1775304004090,"version":"3.50.1"},"reference-count":6,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,5]]},"abstract":"<jats:p>A retrospective cytogenetic study was carried out on the parents of children with regular trisomy 21 Down's syndrome. In a total of 128 parents referred routinely to our laboratory after the birth of their affected child, three structural abnormalities, a reciprocal translocation and two pericentric inversions not involving chromosome 21, were detected. This is about 10 times the frequency expected based on current figures from consecutive newborn studies. In addition, the brother of one of nine older people with trisomy 21 referred for cytogenetic analysis for the first time was found to have a reciprocal translocation. This supports the contention made by others that an interchromosomal effect does exist in man. It is suggested that centres who routinely analyse the parents of their trisomy 21 referrals in an unbiased fashion should review their records. They will almost certainly contain useful information regarding the possible existence of this phenomenon and may even contain clues as to its nature. In addition to its undoubted scientific value, such data should prove useful in the genetic counselling of carriers of structural rearrangements.<\/jats:p>","DOI":"10.1136\/jmg.24.5.280","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"280-282","source":"Crossref","is-referenced-by-count":14,"title":["Structural rearrangements in the parents of children with primary trisomy 21."],"prefix":"10.1136","volume":"24","author":[{"given":"D A","family":"Couzin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Watt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G S","family":"Stephen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,5,1]]},"reference":[{"key":"ref_1","article-title":"A catalogue of unbalanced chromosome aberrations in man","author":"Schinzel, A.","unstructured":"Schinzel A. A catalogue of unbalanced chromosome aberrations in man. New York: de Gruyter, 1984:23."},{"issue":"22","key":"ref_2","first-page":"24","article-title":"The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect'?","volume":"1985","author":"Lindenbaum, R.H.; Hult6n, M.; McDermott, A.; Scabright, M.","unstructured":"Lindenbaum RH, Hult6n M, McDermott A, Scabright M. The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect'? J Med Geniet 1985:22:24-8.","journal-title":"J Med Geniet"},{"issue":"32","key":"ref_3","first-page":"326","article-title":"Autosomal disorders","volume":"1963","author":"Lejeune, J.","unstructured":"Lejeune J. Autosomal disorders. Pediatrics 1963:32:326-7.","journal-title":"Pediatrics"},{"key":"ref_4","first-page":"1","article-title":"Down's syndrome. Current stage of cytogenetic research","volume":"12","author":"Mikkelsen, M.","year":"1971","unstructured":"Mikkelsen M. Down's syndrome. Current stage of cytogenetic research. Humangenetik 1971;12:1-28.","journal-title":"Humangenetik"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF00278725","article-title":"Systematic analysis of 95 reciprocal translocations of autosomes","volume":"45","author":"Aurias, A.; Prieur, M.; Dutrillaux, B.; Lejeune, J.","year":"1978","unstructured":"Aurias A, Prieur M, Dutrillaux B, Lejeune J. Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 1978;45:259-82.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"\"71","article-title":"Recurrence risks for chromosome abnormalities","volume":"5","author":"Jacobs, P.A.","year":"1979","unstructured":"Jacobs PA. Recurrence risks for chromosome abnormalities. Birth Defects 1979;XV(5C):71-80. van Dyke DL, Weiss L, Robertson JR. Ramesh Babu V. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet 1983;35:301-8.","journal-title":"The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age; Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.5.280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:46:23Z","timestamp":1760762783000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.5.280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,5]]},"references-count":6,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1987,5,1]]},"published-print":{"date-parts":[[1987,5]]}},"alternative-id":["10.1136\/jmg.24.5.280"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.5.280","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,5]]}}}