{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:48:19Z","timestamp":1793245699203,"version":"4.5.0"},"reference-count":34,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,8,14]]},"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Recurrent microdeletions and microduplications of \u223c555\u2005kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We report five autistic probands identified by microarray analysis with copy number variation (CNV) of 16p11.2 (three deletions, two duplications). Each patient was assessed for ASD and dysmorphic features. We also describe a deletion positive 26-month-old female who has developmental delay (DD) and autistic features.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Proband 1 (female with ASD, de novo deletion) is not dysmorphic. Proband 2 (male with autism, de novo deletion) and proband 3 and his brother (males with autism, inherited deletions) are dysmorphic, but the two probands do not resemble one another. The mother of proband 3 has mild mental retardation (MR), minor dysmorphism and meets the criteria for ASD. Proband 4 (dysmorphic autistic male, de novo duplication) had a congenital diaphragmatic hernia. Proband 5 (non-dysmorphic ASD female with a duplication) has two apparently healthy duplication positive relatives. Probands 1 and 2 have deletion negative siblings with ASD and Asperger syndrome, respectively. Proband 6 (a female with DD and an inherited duplication) is dysmorphic, but has oligohydramnios sequence.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The phenotypic spectrum associated with CNV at 16p11.2 includes ASD, MR\/DD and\/or possibly other primary psychiatric disorders. Compared with the microduplications, the reciprocal microdeletions are more likely to be penetrant and to be associated with non-specific major or minor dysmorphism. There are deletion positive ASD probands with a less severe phenotype than deletion negative ASD siblings underscoring the significant phenotypic heterogeneity.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.069369","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T23:09:46Z","timestamp":1253056186000},"page":"195-203","source":"Crossref","is-referenced-by-count":241,"title":["Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder"],"prefix":"10.1136","volume":"47","author":[{"given":"Bridget A","family":"Fernandez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Meyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Szatmari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann M","family":"Joseph-George","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"MacKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Whitten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Noble","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Vardy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Crosbie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Luscombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Tucker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,9,15]]},"reference":[{"key":"2025100521503413000_47.3.195.1","unstructured":"American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th rev ed. Washington: American Psychiatric Association, 1994."},{"key":"2025100521503413000_47.3.195.2","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.162.6.1133"},{"key":"2025100521503413000_47.3.195.3","doi-asserted-by":"publisher","DOI":"10.1007\/BF02211816"},{"key":"2025100521503413000_47.3.195.4","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001896"},{"key":"2025100521503413000_47.3.195.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijdevneu.2004.11.001"},{"key":"2025100521503413000_47.3.195.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1985"},{"key":"2025100521503413000_47.3.195.7","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138659"},{"key":"2025100521503413000_47.3.195.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"2025100521503413000_47.3.195.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm376"},{"key":"2025100521503413000_47.3.195.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075974"},{"key":"2025100521503413000_47.3.195.11","doi-asserted-by":"publisher","DOI":"10.1038\/ng2084"},{"key":"2025100521503413000_47.3.195.12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004582"},{"key":"2025100521503413000_47.3.195.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.006"},{"key":"2025100521503413000_47.3.195.14","doi-asserted-by":"publisher","DOI":"10.1007\/BF02172145"},{"key":"2025100521503413000_47.3.195.15","doi-asserted-by":"publisher","DOI":"10.1007\/BF02211841"},{"key":"2025100521503413000_47.3.195.16","doi-asserted-by":"publisher","DOI":"10.1007\/BF02408436"},{"key":"2025100521503413000_47.3.195.17","unstructured":"Carrow-Woolfolk E . Oral and written language scales: written expression scale manual. Circles Pines: American Guidance Service, 1996."},{"key":"2025100521503413000_47.3.195.18","unstructured":"Levine M . Leiter international performance scale: A handbook (Arthur adaptation). Los Angeles: Western Psychological Services, 1986."},{"key":"2025100521503413000_47.3.195.19","unstructured":"Weschler D . Manual for the Weschler Intelligence Scale. New York (New York): The Psychological Corporation, 1974."},{"key":"2025100521503413000_47.3.195.20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm241"},{"key":"2025100521503413000_47.3.195.21","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"2025100521503413000_47.3.195.22","doi-asserted-by":"publisher","DOI":"10.1038\/ng753"},{"key":"2025100521503413000_47.3.195.23","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.175.5.444"},{"key":"2025100521503413000_47.3.195.24","first-page":"3","article-title":"Scalogram analysis of some developmental sequences of infant behavior as measured by the Bayley Infant Scale of Mental Development","volume":"76","author":"Kohen-Raz","year":"1967","journal-title":"Genet Psychol Monogr"},{"key":"2025100521503413000_47.3.195.25","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1002\/ajmg.a.31837","article-title":"A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation","volume":"143A","author":"Ghebranious","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100521503413000_47.3.195.26","unstructured":"Sparrow S Balla D Cicchetti DV . Vineland adaptive behavior scales (Survey Forms). Circles Pines: American Guidance Service, 1984."},{"key":"2025100521503413000_47.3.195.27","doi-asserted-by":"publisher","DOI":"10.1038\/nature07458"},{"key":"2025100521503413000_47.3.195.28","doi-asserted-by":"publisher","DOI":"10.1126\/science.1155174"},{"key":"2025100521503413000_47.3.195.29","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/GIM.0b013e31816b64c2","article-title":"Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes","volume":"10","author":"Ou","year":"2008","journal-title":"Genet Med"},{"key":"2025100521503413000_47.3.195.30","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318183f848"},{"key":"2025100521503413000_47.3.195.31","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/GIM.0b013e31816b5cc9","article-title":"Clinical genetics evaluation in identifying the etiology of autism spectrum disorders","volume":"10","author":"Schaefer","year":"2008","journal-title":"Genet Med"},{"key":"2025100521503413000_47.3.195.32","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1176\/ajp.146.8.1032","article-title":"The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling","volume":"146","author":"Ritvo","year":"1989","journal-title":"Am J Psychiatry"},{"key":"2025100521503413000_47.3.195.33","doi-asserted-by":"publisher","DOI":"10.1038\/35103559"},{"key":"2025100521503413000_47.3.195.34","doi-asserted-by":"publisher","DOI":"10.1038\/nature07953"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2009.069369","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:50:46Z","timestamp":1759726246000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2009.069369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9,15]]},"references-count":34,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,3,19]]},"published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1136\/jmg.2009.069369"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2009.069369","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9,15]]}}}