{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:14:06Z","timestamp":1790702046930,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,8,20]],"date-time":"2008-08-20T00:00:00Z","timestamp":1219190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:p>A familial q21.1q23.2\u2010inversion on chromosome 14 that co\u2010segregated with spherocytosis and learning difficulties or mild mental retardation was extensively investigated by bacterial artificial chromosome fluorescence <jats:italic>in situ <\/jats:italic>hybridization and array\u2010comparative genomic hybridization. As expected, a deletion of the beta\u2010spectrin gene <jats:italic>SPTB<\/jats:italic>, a known cause of spherocytosis, was found. More unexpectedly, this deletion was \u223c1.6\u2003Mb distal to the 14q23.2\u2010inversion breakpoint. The deletion spanned \u223c2.1\u2003Mb and contained 15 annotated genes in addition to <jats:italic>SPTB<\/jats:italic>, among them <jats:italic>PLEKHG3<\/jats:italic>, a guanide nucleotide exchange factor for Rho GTPases. This gene is highly expressed in the brain and our best candidate for causing the mild mental retardation. The case illustrates that inversions can be associated with microdeletions close to but not including one of the inversion breakpoints.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01072.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:23:27Z","timestamp":1232706207000},"page":"553-559","source":"Crossref","is-referenced-by-count":23,"title":["A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties"],"prefix":"10.1111","volume":"74","author":[{"given":"H","family":"Lyb\u00e6k","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"\u00d8yen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Fauske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,11,20]]},"reference":[{"key":"e_1_2_5_2_2","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner R","year":"2004"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000132939"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1998.0217"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-007-0385-1"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/neu.20153"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/80002"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.3.691-702.2001"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<372::AID-AJMG2>3.0.CO;2-P"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10173"},{"key":"e_1_2_5_12_2","first-page":"333","article-title":"Stable dicentric duplication\u2010deficiency chromosome 14 resulting from crossing\u2010over within a maternal paracentric inversion","volume":"118","author":"Lefort G","year":"2003","journal-title":"Am J Med Genet A"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<336::AID-AJMG8>3.0.CO;2-H"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31496"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31087"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1181"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.335"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.07.004"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024141"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1273-4"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.01072.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.01072.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:59:13Z","timestamp":1696928353000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.01072.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,20]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1111\/j.1399-0004.2008.01072.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01072.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,20]]}}}