Delineation of 2q32q35 Deletion Phenotypes: Two Apparent "Proximal" and "Distal" Syndromes. (9th June 2013)

• Record Type: Journal Article
• Authors: Mc Cormack, Adrian; Taylor, Juliet; Gregersen, Nerine; George, Alice M.; Love, Donald R.
• Other Names: Cotter P. D. Academic Editor.; Grant S. F. Academic Editor.; Iovannisci D. M. Academic Editor.; López Ginés C. Academic Editor.; Velagaleti G. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2013(2013)
• Publication Date: 2013-06-09
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2013/823451
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1–q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare the phenotype with those reported in the literature. Taken together, these data suggest that there is a spectrum of disease severity such that patients with deletions encompassing the region of 2q32.1q32.2, which includes the FRZB gene, show an apparently milder phenotype compared to those that lie further distal in 2q32.3q35 that encompasses the SATB2 gene.