{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T03:21:22Z","timestamp":1776223282441,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T00:00:00Z","timestamp":1666224000000},"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":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Williams syndrome (WS) is a well\u2010known genetic disorder caused by heterozygous microdeletions of the 7q11.23 chromosome region. The main clinical features of the syndrome are characteristic facial dysmorphisms, cardiovascular and endocrine anomalies, short stature, mild\u2010to\u2010moderate intellectual disability, and a recognizable cognitive and behavioral profile. Differently from large chromosomal imbalances and aneuploidies, mosaicism has only rarely been found in microdeletion syndromes, and mosaic cases with WS phenotype have never been reported. We here describe a 51\u2010year\u2010old female patient with the typical clinical features of WS, whose chromosomal microarray analysis and fluorescence in situ hybridization disclosed a 54%\u201368% germline mosaicism for 7q11.23 deletion.<\/jats:p>","DOI":"10.1002\/ajmg.a.63002","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T09:44:03Z","timestamp":1666259043000},"page":"249-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mosaic Williams syndrome: A case report"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9459-9741","authenticated-orcid":false,"given":"Silvia","family":"Kalantari","sequence":"first","affiliation":[{"name":"Department of Medical Sciences University of Turin  Turin Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta Di","family":"Biagio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"IRCCS Mondino Foundation Neurogenetics Research Center  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"IRCCS Mondino Foundation Neurogenetics Research Center  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"IRCCS Mondino Foundation Neurogenetics Research Center  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Medical Genetics Unit IRCCS San Matteo Foundation  Pavia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-4-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36307"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195711142572001"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196407162710302"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36322"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2018\/37540.12234"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38206"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38672"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21418"},{"key":"e_1_2_7_12_1","first-page":"1","volume-title":"GeneReviews","author":"Morris C. A.","year":"2017"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0903074"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302367"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36304"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700406"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmu016"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<145::AID-AJMG10>3.0.CO;2-R"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.24.6.1311"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63002","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63002","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T10:00:29Z","timestamp":1692439229000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,20]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ajmg.a.63002"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63002","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,20]]},"assertion":[{"value":"2022-03-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}