Original ArticlesChromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesityHyder, Zerina; Fairclough, Adeleb; Douzgou, Sofiaa,,cAuthor Information aManchester Centre for Genomic Medicine bGenomics Diagnostic Laboratory, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK Received 2 July 2018 Accepted 8 April 2019 Correspondence to Zerin Hyder, MBChB, BSc, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK, Tel: 0161 276 6322; fax: 0161 276 6145; email: [email protected] Clinical Dysmorphology: July 2019 - Volume 28 - Issue 3 - p 129-134 doi: 10.1097/MCD.0000000000000281 Buy Metrics Abstract Intermediate interstitial deletions of the long arm of chromosome 1 are typically associated with developmental delay and dysmorphic features. We describe the case of a 31-year-old male with intellectual disability, obesity and dysmorphic features, in whom array–comparative genomic hybridization identified a de novo 9.55 Mb deletion at 1q31.2q32.1. We discuss the genes encompassed within the deleted region; in particular, the implications of the deleted cancer-predisposing gene, CDC-73, and compare our clinical findings to other cases with similar deletions. The absence of microcephaly and growth retardation appears to differentiate more proximal interstitial 1q deletions from intermediate 1q deletions, and the presence of obesity is a newly reported phenotype within the 1q deletion spectrum. It is imperative that surveillance for CDC-73 related disorders, including parathyroid carcinoma, is considered in the management of interstitial intermediate 1q deletions. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.