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However, these figures are roughly estimated and neither any systematic study nor exact or evidence\u2010based risk calculations are available. To address this question, an extensive literature search was performed and surprisingly only 29 case reports of recurrence of de novo structural or combined structural and numeric chromosomal rearrangements were found. Thirteen of them were with a trisomy 21 due to an i(21q) replacing one normal chromosome 21. In eight of them low\u2010level mosaicism in one of the parents was found either in fibroblasts or in blood or in both. As a consequence of the low number of cases and theoretical considerations (clinical consequences, mechanisms of formation, etc.), the recurrence risk should be reduced to less than 1% for a de novo i(21q) and to even less than 0.3% for all other de novo structural or combined structural and numeric chromosomal rearrangements. As the latter is lower than the commonly accepted risk of approximately 0.3% for indicating an invasive prenatal diagnosis and as the risk of abortion of a healthy fetus after chorionic villous sampling or amniocentesis is higher than approximately 0.5%, invasive prenatal investigation in most cases is not indicated and should only be performed if explicitly asked by the parents subsequent to appropriate genetic counseling. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31826","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T20:19:15Z","timestamp":1183148355000},"page":"1708-1714","source":"Crossref","is-referenced-by-count":27,"title":["Recurrence risk in de novo structural chromosomal rearrangements"],"prefix":"10.1002","volume":"143A","author":[{"given":"Benno","family":"R\u00f6thlisberger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"Kotzot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,6,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.553"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00219679"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80395-5"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1295"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02841.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1182\/blood.V69.1.156.156","article-title":"Association of red cell spherocytosis with deletion of the short arm of chromosome 8","volume":"69","author":"Chilcote RR","year":"1987","journal-title":"Blood"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.789-a"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1893"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/16.1.63"},{"key":"e_1_2_4_11_1","first-page":"935","article-title":"Prader\u2010Willi syndrome large deletion on two brothers. 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