{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:33:04Z","timestamp":1791120784009,"version":"4.1.0"},"reference-count":41,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim:<\/jats:title>\n                  <jats:p>We report the molecular and\/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>We estimate the prevalence of the syndrome to be 1 in 16\u2009000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly\/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney\/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729\u201341470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (<jats:italic>MAPT<\/jats:italic>). Mutation screening of <jats:italic>MAPT<\/jats:italic> in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a &lt;500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p&lt;10<jats:sup>\u22125<\/jats:sup>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.058701","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T23:33:31Z","timestamp":1216164811000},"page":"710-720","source":"Crossref","is-referenced-by-count":186,"title":["Clinical and molecular delineation of the 17q21.31 microdeletion syndrome"],"prefix":"10.1136","volume":"45","author":[{"given":"D A","family":"Koolen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A J","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H V","family":"Firth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S J L","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Goldenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Saugier-Veber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L E L M","family":"Vissers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Destr\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Grisart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Rooms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Van der Aa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Field","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Hackett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J M","family":"Nowaczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G M S","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P J","family":"Poddighe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"De Gregori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L L","family":"Antonacci-Fulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"II","given":"M D","family":"McLellan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Garrett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M A","family":"Wiechert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T L","family":"Miner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Crosby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Ciccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Willatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Aradhya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M A","family":"Manning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T M","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Wagenstaller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A C","family":"Krepischi-Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A M","family":"Vianna-Morgante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Price","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Shaw-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H G","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A O M","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E E","family":"Eichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B B A","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,7,15]]},"reference":[{"key":"2025100511415288000_45.11.710.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1853"},{"key":"2025100511415288000_45.11.710.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1862"},{"key":"2025100511415288000_45.11.710.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1858"},{"key":"2025100511415288000_45.11.710.4","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1002\/ajmg.a.31773","article-title":"Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.","volume":"143","author":"Aradhya","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100511415288000_45.11.710.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050914"},{"key":"2025100511415288000_45.11.710.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"2025100511415288000_45.11.710.7","doi-asserted-by":"publisher","DOI":"10.1159\/000091934"},{"key":"2025100511415288000_45.11.710.8","doi-asserted-by":"publisher","DOI":"10.1086\/521274"},{"key":"2025100511415288000_45.11.710.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(02)02592-1"},{"key":"2025100511415288000_45.11.710.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.05.001"},{"key":"2025100511415288000_45.11.710.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng1508"},{"key":"2025100511415288000_45.11.710.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(98)01555-8"},{"key":"2025100511415288000_45.11.710.13","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/nrg1767","article-title":"Structural variation in the human genome.","volume":"7","author":"Feuk","year":"2006","journal-title":"Nat Rev Genet"},{"key":"2025100511415288000_45.11.710.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng.93"},{"key":"2025100511415288000_45.11.710.15","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"2025100511415288000_45.11.710.16","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20054"},{"key":"2025100511415288000_45.11.710.17","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201661"},{"key":"2025100511415288000_45.11.710.18","doi-asserted-by":"publisher","DOI":"10.1086\/431652"},{"key":"2025100511415288000_45.11.710.19","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1097\/01.GIM.0000170992.63691.32","article-title":"Development and validation of a CGH microarray for clinical cytogenetic diagnosis.","volume":"7","author":"Cheung","year":"2005","journal-title":"Genet Med"},{"key":"2025100511415288000_45.11.710.20","doi-asserted-by":"publisher","DOI":"10.1086\/497343"},{"key":"2025100511415288000_45.11.710.21","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-1-4-287"},{"key":"2025100511415288000_45.11.710.22","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-0465"},{"key":"2025100511415288000_45.11.710.23","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20243"},{"key":"2025100511415288000_45.11.710.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.4.711"},{"key":"2025100511415288000_45.11.710.25","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi241"},{"key":"2025100511415288000_45.11.710.26","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.14.2745"},{"key":"2025100511415288000_45.11.710.27","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6151507"},{"key":"2025100511415288000_45.11.710.28","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10031"},{"key":"2025100511415288000_45.11.710.29","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1469-8749.1997.tb07395.x","article-title":"The prevalence of mental retardation: a critical review of recent literature.","volume":"39","author":"Roeleveld","year":"1997","journal-title":"Dev Med Child Neurol"},{"key":"2025100511415288000_45.11.710.30","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1086\/515496","article-title":"Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.","volume":"61","author":"de Vries","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025100511415288000_45.11.710.31","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.10.5598"},{"key":"2025100511415288000_45.11.710.32","doi-asserted-by":"publisher","DOI":"10.1038\/31508"},{"key":"2025100511415288000_45.11.710.33","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031377"},{"key":"2025100511415288000_45.11.710.34","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199912000-00002"},{"key":"2025100511415288000_45.11.710.35","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200012)48:6<859::AID-ANA6>3.0.CO;2-1"},{"key":"2025100511415288000_45.11.710.36","doi-asserted-by":"publisher","DOI":"10.1038\/ng1126"},{"key":"2025100511415288000_45.11.710.37","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-70"},{"key":"2025100511415288000_45.11.710.38","doi-asserted-by":"publisher","DOI":"10.1038\/ng0906-974"},{"key":"2025100511415288000_45.11.710.39","doi-asserted-by":"crossref","first-page":"2730","DOI":"10.1002\/ajmg.a.31530","article-title":"Clinical features and management issues in Mowat-Wilson syndrome.","volume":"140","author":"Adam","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2025100511415288000_45.11.710.40","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.104547"},{"key":"2025100511415288000_45.11.710.41","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/ajmg.c.30139","article-title":"Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.","volume":"145","author":"Pober","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.058701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:41:57Z","timestamp":1759689717000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.058701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,15]]},"references-count":41,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2008,10,31]]},"published-print":{"date-parts":[[2008,11]]}},"alternative-id":["10.1136\/jmg.2008.058701"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.058701","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,15]]}}}