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We discuss a novel approach to the elucidation of this case using a multiprobe fluorescence in situ hybridisation method to show rearrangements unpredictable from G banded analysis, and the clear and unambiguous presentation of the karyotype using computer generated colour ideograms.<\/jats:p>","DOI":"10.1136\/jmg.35.3.234","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"234-237","source":"Crossref","is-referenced-by-count":13,"title":["A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome."],"prefix":"10.1136","volume":"35","author":[{"given":"C M","family":"Ogilvie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F L","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P N","family":"Scriven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z","family":"Docherty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/j.1399-0004.1980.tb01790.x","article-title":"Complex chromosome rearrangements","volume":"18","author":"Pai, G.S.; Thomas, G.H.; Mahoney, W.; Migeon, G.R.","year":"1980","unstructured":"Pai GS, Thomas GH, Mahoney W, Migeon GR. 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Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique. Med Genet 1997;34:912-16.","journal-title":"Med Genet"},{"key":"ref_8","article-title":"An international system for human cytogenetic nomenclature","author":"Mitelman, F.","year":"1995","unstructured":"ISCN (1995). In: Mitelman F, ed. An international system for human cytogenetic nomenclature. Basel: Karger, 1995."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/jmg.29.4.253","article-title":"A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-+q35.1","volume":"29","author":"Tupler, R.; Maraschio, P.; Gerardo, A.; Mainieri, R.; Lanzi, G.; Tiepolo, L.","year":"1992","unstructured":"Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L. 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