{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T22:29:15Z","timestamp":1766269755909},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,2,6]],"date-time":"2003-02-06T00:00:00Z","timestamp":1044489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an infant with minor anomalies and a de novo 1q duplication. The chromosomal abnormality was diagnosed prenatally after sonographic detection of cerebral ventriculomegaly and bilateral choroid plexus cysts in the fetus. The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward\u2010slanting palpebral fissures, a high\u2010arched and narrow palate, malformed ears, and long feet with overriding second and third toes. This is the sixth case of known duplication involving the 1q32q44 segment; the physical findings in the case reported herein are similar to those of other patients reported previously, providing further evidence of the existence of the \u201cdistal 1q trisomy\u201d phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20028","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"229-233","source":"Crossref","is-referenced-by-count":28,"title":["De novo 1q32q44 duplication and distal 1q trisomy syndrome"],"prefix":"10.1002","volume":"120A","author":[{"given":"Ma\u0142gorzata J.M.","family":"Nowaczyk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Bayani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viola","family":"Freeman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Watts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Squire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"41","article-title":"Congenital ocular defect associated with an abnormality of the human chromosome 1: Trisomy 1q32\u2010qter","volume":"31","author":"Clark BJ","year":"1994","journal-title":"J Pediatr Ophtal Strab"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.309"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00839.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<551::AID-AJMG5>3.0.CO;2-S"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390305"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1359641"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.5.398"},{"key":"e_1_2_6_9_1","first-page":"371","article-title":"Partial trisomy 1 due to a \u201cshift\u201d and probable location of the Duffy (Fy) locus","volume":"29","author":"Palmer CG","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00945.x"},{"issue":"2","key":"e_1_2_6_11_1","first-page":"A636","article-title":"Duplication 1q32q42 syndrome in a child with \u03b1\u2010thalassemia trait","volume":"67","author":"Ramesh KH","year":"2000","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<257::AID-AJMG1>3.0.CO;2-K"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<163::AID-AJMG14>3.0.CO;2-Z"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390432"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.2.133"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.371-a"}],"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.20028","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:45:49Z","timestamp":1700160349000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2,6]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,7,15]]}},"alternative-id":["10.1002\/ajmg.a.20028"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20028","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2,6]]}}}