De novo direct tandem duplication of the proximal long arm of chromosome 2: 46, XX, dir dup(2)(q11 X 2q14 X 2). Issue 1 (February 1984)

• Record Type: Journal Article
• Authors: Mu, Y; Van Dyke, D L; Weiss, L; Olgac, S
• Is Part Of: Journal of medical genetics. Volume 21:Issue 1(1984)
• Page Start: 57
• Page End: 58
• Publication Date: 1984-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.1.57
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.