De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism. (3rd February 2016)

• Record Type: Journal Article
• Authors: Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J.
• Other Names: Cotter Philip D. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2016(2016)
• Publication Date: 2016-02-03
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2016/2501741
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199, 985, 888-203, 690, 832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.