Brief ReportParoxysmal oculogyric dystonia associated with a de novo 3q29 microdeletionKaur, Harsimrana; Thom, Robyn P.b,,c; Neumeyer, Ann M.b,,d,,e; Bilancia, Colleen G.f; Wray, Shirley H.b,,e; McDougle, Christopher J.b,,c,,dAuthor Information aGovernment Medical College, Medical Enclave, Amritsar, Punjab, India bMassachusetts General Hospital cDepartment of Psychiatry, Harvard Medical School, Boston dLurie Center for Autism, Lexington eDepartment of Neurology, Harvard Medical School, Boston, Massachusetts, USA fLineagen Inc., Salt Lake City, Utah, USA Received 15 November 2019 Accepted 3 April 2020 Correspondence to Christopher J. McDougle, MD, Lurie Center for Autism, 1 Maguire Road, Lexington, MA 02421, USA, Tel+: 781 860 1700; fax: +781 860 1766; e-mail: firstname.lastname@example.org Psychiatric Genetics: August 2020 - Volume 30 - Issue 4 - p 119-123 doi: 10.1097/YPG.0000000000000256 Buy Metrics Abstract 3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gastrointestinal disorders, dental abnormalities, feeding problems during infancy, recurrent ear infections, and heart defects have also been observed. Since the incidence of the deletion is rare, the phenotype has not been fully described, particularly in adults. This report describes a young adult female with 3q29 deletion syndrome, autism spectrum disorder, intellectual disability, and anxiety who experienced a sustained, non-medication induced paroxysmal oculogyric dystonia which responded to anticholinergic and antihistaminic medications. This is the first report of paroxysmal oculogyric dystonia associated with this deletion, possibly expanding the phenotypic features of this microdeletion syndrome. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.