{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T06:09:35Z","timestamp":1759730975145},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4175,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12\u2013q33.2) and one with a smaller duplication (q21.12\u2013q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11\u2013q13 to q32\u2013q33). \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490112","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T21:53:47Z","timestamp":1123538027000},"page":"67-73","source":"Crossref","is-referenced-by-count":19,"title":["Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence"],"prefix":"10.1002","volume":"49","author":[{"given":"Valerie","family":"Lindgren","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Rosinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet","family":"Chin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Berry\u2010Kravis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"848","article-title":"Partial trisomy 9q due to maternal 9\/17 translocation","volume":"134","author":"Aftimos SF","year":"1980","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_3_1","first-page":"1005","article-title":"Duplication 9q34 syndrome","volume":"35","author":"Allderdice PW","year":"1983","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_4_1","first-page":"109","article-title":"Trisomia parziale 9q: Riscontro della sindrome in due sorelle","volume":"38","author":"Bianchi GP","year":"1986","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_5_1","first-page":"964","article-title":"Molecular genetic study of the freqency of monomsomy 22q11 in DiGeorge syndrome","volume":"51","author":"Carey AH","year":"1992","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00527411"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410223"},{"key":"e_1_2_1_9_1","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: Consisten deletions and microdeletions of 22q11","volume":"50","author":"Driscoll DA","year":"1992","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_10_1","first-page":"A3","article-title":"Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH); 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