{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:01:03Z","timestamp":1791043263811,"version":"4.1.0"},"reference-count":87,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T00:00:00Z","timestamp":1160524800000},"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":[[2006,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain\u2010imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (<jats:italic>P<\/jats:italic>\u2009=\u20090.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega\u2010cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31443","type":"journal-article","created":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T21:04:24Z","timestamp":1160600664000},"page":"2416-2425","source":"Crossref","is-referenced-by-count":132,"title":["Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation"],"prefix":"10.1002","volume":"140A","author":[{"given":"Nathaniel H.","family":"Robin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare J.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"McDonald\u2010McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Earl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Gill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Katz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla N.","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger F.","family":"Massey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"McDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Curtis","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Splitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc D.","family":"Tischkowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Stoodley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela T.","family":"Pilz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,10,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1517"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<328::AID-AJMG13>3.0.CO;2-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973749"},{"key":"e_1_2_7_5_1","first-page":"1814","article-title":"Syndromes of bilateral symmetrical polymicrogyria","volume":"20","author":"Barkovich AJ","year":"1999","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.12.2168"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183747.05269.2d"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/S031716710002610X"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1999.tb01987.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/13554790490495519"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296788"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<538::AID-AJMG17>3.0.CO;2-D"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1500"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580111.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.9.1910"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/431244"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.763"},{"key":"e_1_2_7_18_1","unstructured":"CallierP FaivreL MarleN Thauvin\u2010RobinetC MadinierN MoscaAL RagotS HuetF TeyssierJR MugneretF.2005.Polymicrogyria in a child with deletion 9p24\u2010pter and microduplication 22q11.2. American Society of Human Genetics 55th Annual Meeting. American Society of Human Genetics Salt Lake City UT October 25\u201329 2005."},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(00)00125-X"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000125187.52952.E9"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(99)00150-X"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.10.2160"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389601100619"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700640308"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30862"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30742"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30741"},{"key":"e_1_2_7_28_1","first-page":"A161 (#878)","article-title":"Pachygyria and polymicrogyria, cranio\u2010facial dysmorphism and atrio\u2010ventricular canal resulting from a duplication of the proximal region of chromosome 11q (11q11\u201011q12)","volume":"64","author":"Dupuy O","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10508"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30743"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2899-04.2005"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(86)80097-3"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10625"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2001.0544"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-463"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410200513"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30060"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<39::AID-ANA7>3.0.CO;2-X"},{"key":"e_1_2_7_39_1","doi-asserted-by":"crossref","first-page":"S9","DOI":"10.1684\/j.1950-6945.2003.tb00560.x","article-title":"Epilepsy and malformations of the cerebral cortex","volume":"5","author":"Guerrini R","year":"2003","journal-title":"Epileptic Disord"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600203"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn828"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-005-1059-8"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10219"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162203000914"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31061"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000904)94:1<77::AID-AJMG16>3.0.CO;2-V"},{"key":"e_1_2_7_47_1","unstructured":"KoganJM EgelhoffJC SaalHM.2005.Interstitial deletion of 13q associated with polymicrogyria. American Society of Human Genetics 55th Annual Meeting. American Society of Human Genetics Salt Lake City UT."},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30377"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901401115"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90363-L"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.3_Part_1.379"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1159\/000243900"},{"key":"e_1_2_7_53_1","first-page":"177","article-title":"A study of 220 patients with polymicrogyria delineates distinct phenotypes and reveals genetic loci on chromosomes 1p, 2p, 6q, 21q and 22q (abstract)","volume":"69","author":"Leventer RJ","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00684769"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.997"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/35065105"},{"key":"e_1_2_7_57_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.7.561"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10576"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031369"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/13.6.641"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn892"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00245-9"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520410"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100023180"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-837542"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20616"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_2_7_68_1","first-page":"151","article-title":"Schizencephaly and congenital cytomegalovirus infection","volume":"25","author":"Sener RN","year":"1998","journal-title":"J Neuroradiol"},{"key":"e_1_2_7_69_1","first-page":"A107","article-title":"Clinical and pathological characterization of epilepsy in patients with monosomy 1p36 and the search for candidate genes (abstract 564)","volume":"65","author":"Shapira SK","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H"},{"key":"e_1_2_7_71_1","first-page":"615","volume-title":"Management of Genetic Syndromes","author":"Shprintzen RJ","year":"2004"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2004.11.018"},{"key":"e_1_2_7_73_1","doi-asserted-by":"publisher","DOI":"10.1086\/432556"},{"key":"e_1_2_7_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm819"},{"key":"e_1_2_7_75_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00328"},{"key":"e_1_2_7_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90094-9"},{"key":"e_1_2_7_77_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1110324"},{"key":"e_1_2_7_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30014"},{"key":"e_1_2_7_79_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.61.11.1085"},{"key":"e_1_2_7_80_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1996.tb12088.x"},{"key":"e_1_2_7_81_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.12.2229"},{"key":"e_1_2_7_82_1","doi-asserted-by":"publisher","DOI":"10.1086\/339433"},{"key":"e_1_2_7_83_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.915"},{"key":"e_1_2_7_84_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100053184"},{"key":"e_1_2_7_85_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009030-00008"},{"key":"e_1_2_7_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"e_1_2_7_87_1","doi-asserted-by":"publisher","DOI":"10.1080\/09297040590911194"},{"key":"e_1_2_7_88_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10068"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31443","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T11:33:10Z","timestamp":1736595190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,26]]},"references-count":87,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2006,11,15]]}},"alternative-id":["10.1002\/ajmg.a.31443"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31443","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,26]]}}}