{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T20:56:17Z","timestamp":1773089777615,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a 22\u2010year\u2010old woman with features of osteogenesis imperfecta (OI), tricho\u2010dento\u2010osseous (TDO) syndrome and intellectual disability. Whole genome oligonucleotide microarray analysis revealed a copy number gain of 3\u2009Mb in 7q32.3\u2010q33 and a loss of 3.4\u2009Mb in 17q21.33\u2010q22. FISH analysis showed that the third copy of 7q32 was inserted into the long arm of one chromosome 17, exactly in the region 17q21.33\u2010q22 that was deleted. The maternal uncle presented with clinical features similar to the proposita and had the same chromosomal anomalies. The mother of the proposita and two other family members were balanced carriers of this rearrangement, interpreted as an interchromosomal reciprocal insertion. Reciprocal insertion\/four\u2010break rearrangement is a very rare chromosomal event. The deleted region on chromosome 17 contains 39 genes, including <jats:italic>COL1A1<\/jats:italic> and <jats:italic>DLX3<\/jats:italic> involved in OI and TDO syndrome respectively. The <jats:italic>CACNA1G<\/jats:italic> gene on the deleted segment of chromosome 17 may be a good candidate gene to explain the intellectual impairment. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36122","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:30:30Z","timestamp":1376623830000},"page":"2504-2511","source":"Crossref","is-referenced-by-count":15,"title":["Osteogenesis imperfecta, tricho\u2010dento\u2010osseous syndrome and intellectual disability: A familial case with 17q21.33\u2010q22 (<i>COL1A1<\/i> and <i>DLX3<\/i>) deletion and 7q32.3\u2010q33 duplication resulting from a reciprocal interchromosomal insertion"],"prefix":"10.1002","volume":"161","author":[{"given":"Radu","family":"Harbuz","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Bilan","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Couet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Charraud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Kitzis","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Gilbert\u2010Dussardier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Centre Hospitalier Universitaire Poitiers France"},{"name":"Equipe de G\u00e9n\u00e9tique de Maladies Rares Universit\u00e9 de Poitiers France"},{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement de l'Ouest CHU de Poitiers France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32093"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.11.4.353"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2042"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195375336.001.0001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33278"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2007.01.010"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R700039200"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002464"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-4-11"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.04.024"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.114579.110"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32398"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9430"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.07.008"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.563"},{"key":"e_1_2_5_20_1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1542\/peds.37.3.498","article-title":"Hereditary enamel hypoplasia: Its association with characteristic hair structure","volume":"37","author":"Robinson GC","year":"1966","journal-title":"Pediatrics"},{"key":"e_1_2_5_21_1","first-page":"17p","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9491"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2009.41"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181f01617"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550410.x"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000398"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520319"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32827"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.05.005"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36122","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:00:10Z","timestamp":1696633210000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,15]]},"references-count":28,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36122"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36122","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,15]]}}}