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Craniofacial malformations involve hypertelorism, hypoplastic nasal alae, and a high incidence of cleft lip and palate. Familial and sporadic cases have been reported consistent with an autosomal recessive mode of inheritance. Mitotic cells from many individuals with RS display a characteristic cytogenetic phenomenon consisting of repulsion of heterochromatic regions near centromeres, particularly of chromosomes 1, 9, 16, and splaying of the short arms of the acrocentrics and of the distal Yq. Mitosis in RS cells is abnormal in metaphase duration and anaphase progression. Specifically, anaphase figures show a higher degree of chromosomes that are outlying, lagging, or prematurely advancing toward the poles compared to normal controls. RS cells have abnormal nuclear morphology and also show a higher frequency of micronucleation than normal cells, presumably as a result of the abnormal mitotic events during anaphase. Therefore, RS has been interpreted as a human mitotic mutation syndrome which leads to secondary developmental defects. This report reviews 100 cases of RS, summarizes the phenotypic, genetic, cytogenetic, and cell biology findings in Roberts syndrome, and introduces the RS Rating for quantitating severity. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470735","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:04Z","timestamp":1118509924000},"page":"1104-1123","source":"Crossref","is-referenced-by-count":154,"title":["Roberts syndrome: A review of 100 cases and a new rating system for severity"],"prefix":"10.1002","volume":"47","author":[{"given":"David J.","family":"Van Den Berg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Francke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01233169"},{"key":"e_1_2_1_3_1","first-page":"239","article-title":"Roberts\u2010SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers [Spa]","volume":"29","author":"Anti\u00f1olo G","year":"1988","journal-title":"Anales Espanoles De Pediatria"},{"key":"e_1_2_1_4_1","first-page":"A71","article-title":"Centromere separation in a low birth weight infant without features of Roberts\u2010SC phocomelia","volume":"45","author":"Anyane\u2010Yeboa K","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"119","article-title":"Tetraphokomelie mit Lippen\u2010Kiefer\u2010Gaumenspalte und Clitorishypertrophie\u2014Ein Syndrom","volume":"2","author":"Appelt H","year":"1966","journal-title":"Paediat Paedol"},{"key":"e_1_2_1_6_1","first-page":"371","article-title":"Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations","volume":"7","author":"Arn PH","year":"1990","journal-title":"Mol Biol Med"},{"key":"e_1_2_1_7_1","first-page":"115","article-title":"Roberts\u2010SC phocomelia syndrome (Ita)","volume":"8","author":"Baggio P","year":"1986","journal-title":"Pediatr Med Chirurg"},{"key":"e_1_2_1_8_1","first-page":"351","article-title":"A case of SC\u2010phocomelia syndrome with nonrandom centromere separation","volume":"104","author":"B\u00f6kesoy I","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00348698"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1161(89)90049-6"},{"key":"e_1_2_1_11_1","first-page":"411","article-title":"Robert's syndrome. 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