PMID- 16642507
OWN - NLM
STAT- MEDLINE
DCOM- 20060727
LR  - 20211020
IS  - 1552-4825 (Print)
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 11
DP  - 2006 Jun 1
TI  - Schizophrenia in an adult with 6p25 deletion syndrome.
PG  - 1208-13
AB  - 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.
CI  - Copyright 2006 Wiley-Liss, Inc.
FAU - Caluseriu, O
AU  - Caluseriu O
AD  - Clinical Genetics Research Program, Centre for Addiction and Mental Health, 
      Toronto, Ontario, Canada.
FAU - Mirza, G
AU  - Mirza G
FAU - Ragoussis, J
AU  - Ragoussis J
FAU - Chow, E W C
AU  - Chow EW
FAU - MacCrimmon, D
AU  - MacCrimmon D
FAU - Bassett, A S
AU  - Bassett AS
LA  - eng
GR  - 79518/CAPMC/CIHR/Canada
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Adult
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Eye Abnormalities
MH  - Female
MH  - Hearing Disorders/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/pathology
MH  - Karyotyping
MH  - Phenotype
MH  - Schizophrenia/*pathology
MH  - Syndrome
PMC - PMC3133765
MID - CAMS1795
OID - NLM: CAMS1795
EDAT- 2006/04/28 09:00
MHDA- 2006/07/28 09:00
PMCR- 2011/07/12
CRDT- 2006/04/28 09:00
PHST- 2006/04/28 09:00 [pubmed]
PHST- 2006/07/28 09:00 [medline]
PHST- 2006/04/28 09:00 [entrez]
PHST- 2011/07/12 00:00 [pmc-release]
AID - 10.1002/ajmg.a.31222 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Jun 1;140(11):1208-13. doi: 10.1002/ajmg.a.31222.