{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:40:16Z","timestamp":1791304816735,"version":"4.3.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,10,5]],"date-time":"2005-10-05T00:00:00Z","timestamp":1128470400000},"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":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.5, SD 10.5 years) with a 22q11.2 deletion ascertained through an adult congenital cardiac clinic (n\u2009=\u200935), psychiatric\u2010related sources (n\u2009=\u200939), or as affected parents of subjects (n\u2009=\u20094). We recorded the lifetime prevalence of features requiring attention, with 95% confidence intervals (CI) not overlapping zero. Subtle learning difficulties, hypernasality and facial gestalt were not included. We investigated ascertainment effects using non\u2010overlapping subgroups ascertained with tetralogy of Fallot (n\u2009=\u200931) or schizophrenia (n\u2009=\u200931). Forty\u2010three features met inclusion criteria and were present in 5% or more patients, including several of later onset (e.g., hypothyroidism, cholelithiasis). Number of features per patient (median 9, range 3\u201322) correlated with hospitalizations (<jats:italic>P<\/jats:italic>\u2009=\u20090.0002) and, when congenital features were excluded, with age (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Adjusting for ascertainment, 25.8% (95% CI, 9.5\u201342.1%) of patients had cardiac anomalies and 22.6% (95% CI, 7.0\u201338.2%) had schizophrenia. Ascertainment subgroups were otherwise similar in median number and prevalence of features. Non\u2010characteristic features are common in 22q11DS. Adjusting for ascertainment effects is important. Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30984","type":"journal-article","created":{"date-parts":[[2005,10,5]],"date-time":"2005-10-05T20:46:45Z","timestamp":1128545205000},"page":"307-313","source":"Crossref","is-referenced-by-count":391,"title":["Clinical features of 78 adults with 22q11 deletion syndrome"],"prefix":"10.1002","volume":"138A","author":[{"given":"Anne S.","family":"Bassett","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva W.C.","family":"Chow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Husted","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Caluseriu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary D.","family":"Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Gatzoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,10,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(99)00114-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980710)81:4<328::AID-AJMG10>3.0.CO;2-N"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(200021)97:1<45::AID-AJMG6>3.0.CO;2-9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.160.9.1580"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)04183-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.156"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.10.1657"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2004.03.018"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00007"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.813"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.88.6.523"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/070674370104600202"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh176"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.794"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560216"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050786"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2235651100"},{"key":"e_1_2_6_22_1","first-page":"11","article-title":"The Philadelphia story: The 22q11.2 deletion: Report on 250 patients","volume":"10","author":"McDonald\u2010McGinn DM","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00006"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00012"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.56.10.940"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1577-8"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.284.7.869"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1612"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.10.038"},{"key":"e_1_2_6_32_1","first-page":"56","article-title":"A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo\u2010cardio\u2010facial syndrome","volume":"15","author":"Shprintzen RJ","year":"1978","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z"},{"key":"e_1_2_6_34_1","first-page":"3","article-title":"Presenting symptoms and clinical features in 130 patients with velo\u2010cardio\u2010facial syndrome. 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