Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

American Journal of Medical GeneticsVolume 100, Issue 1 p. 13-24 Brief Clinical Report Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature Lynne M. Bird, Corresponding Author Lynne M. Bird Lynnembird@aol.com Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California Department of Pediatrics, University of California, San Diego, California3020 Children's Way #5031, Children's Hospital & Health Center, Genetics/Dysmorphology, San Diego, CA 92123.Search for more papers by this authorJames T. Mascarello, James T. Mascarello Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California Department of Pediatrics, University of California, San Diego, CaliforniaSearch for more papers by this author Lynne M. Bird, Corresponding Author Lynne M. Bird Lynnembird@aol.com Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California Department of Pediatrics, University of California, San Diego, California3020 Children's Way #5031, Children's Hospital & Health Center, Genetics/Dysmorphology, San Diego, CA 92123.Search for more papers by this authorJames T. Mascarello, James T. Mascarello Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California Department of Pediatrics, University of California, San Diego, CaliforniaSearch for more papers by this author First published: 18 April 2001 https://doi.org/10.1002/1096-8628(20010415)100:1<13::AID-AJMG1185>3.0.CO;2-5Citations: 23Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Abstract A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment. © 2001 Wiley-Liss, Inc. Citing Literature Volume100, Issue115 April 2001Pages 13-24 RelatedInformation