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In a few patients, C banding and in vitro differentiation with BUDR and acridine orange (R banding) were also used. In patients with structural abnormality, parental chromosomes were studied using the same techniques.<\/jats:p><jats:p>A chromosome abnormality was found in 42 patients (21%). Of these, 16 (8%) had complete or mosaic aneuploidies (11 autosomal and 5 gonosomal); and 26 (13%) had structural defects. In 21 of the latter the structural abnormality occurred as a de novo rearrangement, and in 5 the defect was inherited from a parent carrier of a balanced rearrangement. The contribution of chromosome aberrations to the cause of (idiopathic) MCA\/MR syndromes is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320120206","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:42:26Z","timestamp":1118515346000},"page":"155-173","source":"Crossref","is-referenced-by-count":30,"title":["Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause"],"prefix":"10.1002","volume":"12","author":[{"given":"Roberto","family":"Coco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor B.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"220","article-title":"Numerische und strukturelle Aberrationen des Chromosoms Nr. 18","volume":"188","author":"Aksu F","year":"1976","journal-title":"Klin P\u00e4diat"},{"key":"e_1_2_1_3_1","unstructured":"AtnipRL WilliamsJD SummittRL(1971):A controlled cytogenetic study of mentally defective children with other anomalies. 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