{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:29:58Z","timestamp":1761845398534,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"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":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present an 18\u2010month\u2010old male with Tetralogy of Fallot, retrognathia, short stature, global developmental delay, and dysmorphic features who was found to have dual diagnoses of both Williams syndrome and 22q11.2 deletion syndrome (22q11.2DS). To our knowledge, this is the second case of such a co\u2010occurrence documented in the medical literature. Our patient presents with a blended physical phenotype of these two conditions and a behavioral phenotype that is distinct from what is typically observed in either disorder alone. We compare our patient's phenotype to the previously reported case and to the typical phenotypes for each individual condition. Additionally, we discuss why the occurrence of these two disorders together seems to be so rare, and the benefit of a genetics evaluation to an inpatient service team and the patient.<\/jats:p>","DOI":"10.1002\/ajmg.a.62419","type":"journal-article","created":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T07:21:16Z","timestamp":1625728876000},"page":"3821-3824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Second instance of co\u2010occurring 22q11.2 deletion syndrome and Williams syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0300-4720","authenticated-orcid":false,"given":"Crescenda L.","family":"Uhles","sequence":"first","affiliation":[{"name":"Department of Genetics Children's Medical Center Dallas  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirelle","family":"Barnes","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Medical Center Dallas  Dallas Texas USA"},{"name":"Department of Pathology Children's Medical Center Dallas  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naseem","family":"Uddin","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Medical Center Dallas  Dallas Texas USA"},{"name":"Department of Pathology University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3506-4640","authenticated-orcid":false,"given":"Luis A.","family":"Uma\u00f1a","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40494"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000018041"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1200395"},{"issue":"3","key":"e_1_2_8_6_1","first-page":"168","article-title":"Zur Genetik des Williams\u2010Beuren\u2010Syndroms und der isolierten form der supravalvul\u00e4ren Aortenstenose. Untersuchungen von 128 Familien (The genetic aspects of Williams\u2010Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families [author's transl])","volume":"69","author":"Grimm T.","year":"1980","journal-title":"Zeitschrift fur Kardiologie"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40470"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijgo.2008.10.014"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0903074"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37116"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700406"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-05-526285"}],"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.62419","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62419","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:19:49Z","timestamp":1692958789000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,8]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/ajmg.a.62419"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62419","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,7,8]]},"assertion":[{"value":"2021-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}