{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:20:53Z","timestamp":1761718853909,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T00:00:00Z","timestamp":1571270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic resonance imaging (MRI). The pattern of WM abnormalities can aid in the diagnostic process. This study aims to characterize the WM changes found in microdeletion\/microduplication syndromes. Thirteen patients with neurodevelopmental disorders due to copy number variations were collected from a cohort of children with evidence of WM abnormalities on brain MRI, in two medical centers. A pediatric neuroradiologist blindly interpreted the MRI scans. Clinical and genetic findings were retrospectively extracted from the medical records. WM changes included: multifocal (10\/13) periventricular (12\/13) and subcortical (5\/13) signal abnormalities and WM volume loss (6\/13). Dysgenesis of the corpus callosum was depicted in 12\/13. The main clinical features were: global developmental delay (13\/13), hypotonia (11\/13), epilepsy (10\/13), dysmorphic features (9\/13), microcephaly (6\/13), short stature (6\/13), and systemic involvement (6\/13). We showed that different chromosomal micro\u2010rearrangement syndromes share similar MRI patterns of nonspecific multifocal predominantly periventricular WM changes associated with corpus callosum dysgenesis with or without WM and gray matter loss. Hence, the association of these features in a patient evaluated for global developmental delay\/intellectual disability suggests a chromosomal micro\u2010rearrangement syndrome, and a chromosomal microarray analysis should be performed.<\/jats:p>","DOI":"10.1002\/ajmg.a.61389","type":"journal-article","created":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T13:20:11Z","timestamp":1571318411000},"page":"93-103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Brain white matter abnormalities associated with copy number variants"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2171-354X","authenticated-orcid":false,"given":"Nitzan","family":"Vigdorovich","sequence":"first","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"Ben\u2010Sira","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"},{"name":"Division of Pediatric Radiology, Department of Radiology Dana\u2010Dwek Children's Hospital, Tel\u2010Aviv Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Blumkin","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronit","family":"Precel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Radiology, Department of Radiology Dana\u2010Dwek Children's Hospital, Tel\u2010Aviv Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ifat","family":"Nezer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keren","family":"Yosovich","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary","family":"Cross","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania"},{"name":"Department of Neurology, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"},{"name":"Institute of Medical Genetics, Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayelet","family":"Zerem","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13043"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2009.03.003"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0929"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2001.81.2.871"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811430268"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.05.002"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00184-2"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2011.07.017"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt358"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00465.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2015.06.012"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2009000400021"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.02.023"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36020"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.71"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0408-1"},{"issue":"3","key":"e_1_2_8_20_1","first-page":"447","article-title":"Myelination in children with partial deletions of chromosome 18q","volume":"26","author":"Lancaster J. L.","year":"2005","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejrad.2007.04.016"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31072"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.10383"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2016-311271"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31334"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320113"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.01.008"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.434"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2009.07.013"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.03.008"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000343049.00540.c8"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-1-45"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.5535\/arm.2015.39.3.482"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35490"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392-018-0015-8"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.88"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.063412"},{"issue":"3","key":"e_1_2_8_39_1","first-page":"586","article-title":"Cerebral white matter abnormalities in 6p25 deletion syndrome","volume":"27","author":"Van der Knaap M. S.","year":"2006","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36309"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33022"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0265-5"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072942"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.06.008"}],"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.61389","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61389","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61389","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:23:18Z","timestamp":1693329798000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,17]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/ajmg.a.61389"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61389","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,10,17]]},"assertion":[{"value":"2019-06-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}