Affiliations: Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA | Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, USA
Note: [] Corresponding author: Merlin G. Butler, MD, PhD, University of Kansas Medical Center, Department of Psychiatry and Behavioral Sciences, 3901 Rainbow Boulevard, MS4015, Kansas City, KS 66160, USA. Tel.: +1 913 588 1873; Fax: +1 913 588 1305; E-mail: mbutler4@kumc.edu
Abstract: We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes, and a de novo 2q14.3 duplication involving four genes. He had a history of speech delay, cognitive deficits, attention deficit hyperactivity disorder and a posterior lenticonus cataract removed at 5 yr of age. The genes on chromosomes 2 and 13 are not known to be involved with cataract formation, which lends further support for a role of the 15q11.2 region and additional evidence for phenotypic expansion of the 15q11.2 BP1-BP2 microdeletion (termed Burnside-Butler) syndrome.
Keywords: Microarray analysis, motor and language delay, congenital cataracts, dysmorphic features
