{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:48:26Z","timestamp":1793245706323,"version":"4.5.0"},"reference-count":48,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,11,2]]},"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech\/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (\u223c40%), behavioural problems (\u223c40%), congenital anomalies (\u223c30%), and autism (\u223c20%). The phenotypes among duplication patients included motor delay (6\/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6\/10), congenital anomalies (5\/10), and seizures (3\/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p&lt;0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.073015","type":"journal-article","created":{"date-parts":[[2009,11,13]],"date-time":"2009-11-13T20:13:01Z","timestamp":1258143181000},"page":"332-341","source":"Crossref","is-referenced-by-count":457,"title":["Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size"],"prefix":"10.1136","volume":"47","author":[{"given":"Marwan","family":"Shinawi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Hae 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