{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:12:34Z","timestamp":1791349954745,"version":"4.3.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T00:00:00Z","timestamp":1323216000000},"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":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on clinical and cytogenetic studies in a 7\u2010year\u2010old child with moderate intellectual disability, short stature, mild dysmorphism, and hearing loss. R\u2010chromosome banding showed a de novo autosomal marker originating from the 17p chromosome segment in all cells analyzed. Array comparative genome hybridization (aCGH) was used to determine the gene content and proximal and distal breakpoints of the small supernumerary marker chromosome (SMC). These breakpoints mapped to the centromere of chromosome 17 and the 17p11.2 region, respectively. Unexpectedly, aCGH analysis also revealed a de novo deletion of 800\u2009kb encompassing six genes in the 17q23.2 region, including <jats:italic>MED13<\/jats:italic> (also known as <jats:italic>THRAP1<\/jats:italic>). We compared our patient with other reported cases of SMC(17), to determine the respective contributions of the duplication and the deletion to the phenotype. We cannot entirely exclude a minor role for the SMC(17), but we suggest that <jats:italic>MED13<\/jats:italic> haploinsufficiency was responsible for the phenotype of the patient particularly the cataract, hearing loss and semicircular canal dysplasia. Moreover, this report highlights the usefulness of aCGH for the specification of gene content in cases of abnormality, facilitating the establishment of accurate phenotype\u2013genotype correlations and the detection of other, complex rearrangements. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34222","type":"journal-article","created":{"date-parts":[[2011,12,7]],"date-time":"2011-12-07T21:29:07Z","timestamp":1323293347000},"page":"400-405","source":"Crossref","is-referenced-by-count":23,"title":["An 800\u2009kb deletion at 17q23.2 including the <i>MED13<\/i> (<i>THRAP1<\/i>) gene, revealed by aCGH in a patient with a SMC 17p"],"prefix":"10.1002","volume":"158A","author":[{"given":"Nadia","family":"Boutry\u2010Kryza","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Schluth\u2010Bolard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Langue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Turleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31539"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201311"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2008.05.023"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00993-08"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32750"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601566"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.82802"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1992"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2010.214"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870090307"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.12.003"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.048637"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1119-5"},{"key":"e_1_2_8_18_1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1242\/dev.128.4.603","article-title":"Drosophila homologues of the transcriptional coactivation complex subunits TRAP240 and TRAP230 are required for identical processes in eye\u2010antennal disc development","volume":"128","author":"Treisman J","year":"2001","journal-title":"Development"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-1-7"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30948"}],"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.34222","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:13:30Z","timestamp":1697620410000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,7]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1002\/ajmg.a.34222"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34222","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,7]]}}}