Schizophrenia in an adult with 6p25 deletion syndrome.

American Journal of Medical Genetics. Part a
O CaluseriuA S Bassett

Abstract

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.

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Citations

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Aug 24, 2007·Proceedings of the National Academy of Sciences of the United States of America·Konstantinos ZarbalisSamuel J Pleasure
Mar 23, 2011·Nucleic Acids Research·Aiping ZhangRandy L Jirtle
Aug 15, 2006·American Journal of Medical Genetics. Part a·Peter KannuSalim Aftimos
Jan 5, 2011·American Journal of Medical Genetics. Part a·Jirair K BedoyanVinod K Misra
Oct 27, 2010·Annals of Neurology·Jonathan H HechtSamuel J Pleasure
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Mar 31, 2015·European Journal of Medical Genetics·Natália D LinharesEugênia R Valadares
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