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In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.<\/jats:p>","DOI":"10.1136\/jmg.19.2.116","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"116-119","source":"Crossref","is-referenced-by-count":26,"title":["Roberts syndrome: clinical and cytogenetic aspects"],"prefix":"10.1136","volume":"19","author":[{"given":"N P","family":"Mann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Fitzsimmons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Fitzsimmons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Cooke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1982,4,1]]},"reference":[{"key":"ref_1","first-page":"252","article-title":"A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and an imperfect development of the bones of the four extremities","volume":"70","author":"Roberts, J.B.","year":"1919","unstructured":"Roberts JB. 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Eur J Pediatr 1977;125: 117-34.","journal-title":"Eur J Pediatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"280","DOI":"10.5694\/j.1326-5377.1973.tb128828.x","article-title":"A sibship with pseudothalidomide syndrome and an association with Rh incompatability","volume":"2","author":"Judge, C.","year":"1973","unstructured":"Judge C. A sibship with pseudothalidomide syndrome and an association with Rh incompatability. Med J Aust 1973;2:280-1.","journal-title":"Med J Aust"},{"issue":"441-7","key":"ref_5","first-page":"486","article-title":"Cytological evidence for a disturbance in chromatid pairing","volume":"16","author":"Stoll, C.; Levy, J.M.; Beshara, D.","year":"1979","unstructured":"Cytological evidence for a disturbance in chromatid pairing. Clin Genet 1979;16:441-7. 6 Stoll C, Levy JM, Beshara D. Roberts's syndrome and clonidine. J Med Genet 1979;16:486-8.","journal-title":"Clin Genet; Roberts's syndrome and clonidine"},{"key":"ref_6","first-page":"40","article-title":"Genetic counselling and Roberts syndrome","volume":"5","author":"Fitzsimmons, E.M.","year":"1980","unstructured":"Fitzsimmons EM. Genetic counselling and Roberts syndrome. Nurs Mirror 1980;5:40-2.","journal-title":"Nurs Mirror"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0022-3476(68)80403-2","article-title":"Familial holoprosencephaly with endocrine dysgenesis","volume":"72","author":"Hintz, R.L.L.; Menking, M.; Sotos, J.F.","year":"1968","unstructured":"Hintz RLL, Menking M, Sotos JF. Familial holoprosencephaly with endocrine dysgenesis. Pediatr 1968;72: 81-7.","journal-title":"Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.2.116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:16:08Z","timestamp":1760728568000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.2.116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1982,4,1]]},"published-print":{"date-parts":[[1982,4]]}},"alternative-id":["10.1136\/jmg.19.2.116"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.2.116","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,4]]}}}