{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:43:53Z","timestamp":1762098233192},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7003,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication\u2010deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was shown to carry an inversion of chromosome 3 in her peripheral blood leukocytes.<\/jats:p><jats:p>His findings are compared to those of another patient with the C trigonocephaly syndrome with normal chromosomes and to others from the literature. At least one other patient from the literature has a phenotype compatible with \u201c3q duplication syndrome\u201d.<\/jats:p>","DOI":"10.1002\/ajmg.1320230409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:36Z","timestamp":1118520216000},"page":"935-943","source":"Crossref","is-referenced-by-count":38,"title":["Diagnosis of chromosome 3 duplication q23\u2192qter, deletion p25\u2192pter in a patient with the C (trigonocephaly) syndrome"],"prefix":"10.1002","volume":"23","author":[{"given":"Marilyn","family":"Preus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James 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