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Duplication 8q22.1-q24.1 associated with bipolar disorder and speech delay

Authors


  • The authors of this paper do not have any commercial associations that might pose a conflict of interest in connection with this manuscript.

Katrina M Dipple, MD, PhD, Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA, Gonda (Goldschmied) Neuroscience and Genetics Research Center, 695 Charles E. Young Drive South, Room 5335, Los Angeles, CA 90095-7088, USA. Fax: +1 (310) 794 5446; e-mail: kdipple@mednet.ucla.edu

Abstract

Objective:  To report a case of a child with bipolar disorder found to have an unbalanced translocation involving the long arm of chromosome 8, a region that has been previously implicated in genome-wide linkage scans.

Case report:  A 7-year-old boy with a complex psychiatric symptom presentation including attention deficits, distractibility, impulsivity, pressured speech, sleep disturbance, aggressive behavior, and hypersexuality diagnosed with bipolar disorder. He also showed evidence of borderline intellectual and adaptive functioning and had mild dysmorphic features with a duplication of distal 8q that arose as an unbalanced chromosomal translocation due to a maternal 15p;8q insertion.

Conclusion:  This finding of an unbalanced translocation provides further evidence to support previous linkage studies of a potential causative gene on 8q for bipolar disorder.

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