Schizophrenia in an adult with 6p25 deletion syndrome.

Journal article

Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation.

Authors: Caluseriu, O; Mirza, G; Ragoussis, J; Chow, E; MacCrimmon, D

• Publication status: Published
• Journal: American journal of medical genetics. Part A
• Volume: 140
• Issue: 11
• Pages: 1208-1213
• Publication date: 2006-06-01
• DOI: 10.1002/ajmg.a.31222
• EISSN: 1552-4833
• ISSN: 1552-4825
• Language: English
• Keywords: Intellectual Disability; Phenotype; Hearing Disorders; In Situ Hybridization, Fluorescence; Schizophrenia; Chromosome Deletion; Adult; Chromosomes, Human, Pair 6; Abnormalities, Multiple; Humans; Eye Abnormalities; Karyotyping; Syndrome; Female