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Schizophrenia in an adult with 6p25 deletion syndrome
Author(s) -
Caluseriu O.,
Mirza G.,
Ragoussis J.,
Chow E.W.C.,
MacCrimmon D.,
Bassett A.S.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31222
Subject(s) - psychosis , schizophrenia (object oriented programming) , breakpoint , fluorescence in situ hybridization , locus (genetics) , intellectual disability , neuroimaging , psychiatry , pediatrics , psychology , genetics , medicine , biology , chromosome , gene
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. © 2006 Wiley‐Liss, Inc.