PMID- 17879154
OWN - NLM
STAT- MEDLINE
DCOM- 20080702
LR  - 20181113
IS  - 0162-3257 (Print)
IS  - 0162-3257 (Linking)
VI  - 38
IP  - 4
DP  - 2008 Apr
TI  - Sequencing and analyzing the t(1;7) reciprocal translocation breakpoints 
      associated with a case of childhood-onset schizophrenia/autistic disorder.
PG  - 668-77
AB  - We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with 
      childhood-onset schizophrenia (COS) and autism using genome mapping and 
      sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence 
      in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring 
      the translocation breakpoint to a approximately 16-kb interval. A cosmid 
      containing the translocation-associated 1:7 junction on der(1) was isolated and 
      sequenced, revealing the positions on chromosomes 1 and 7, respectively, where 
      the translocation occurred. PCR-based studies enabled the isolation and 
      sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene 
      on either chromosome appears to be disrupted by the translocation. We further 
      found no evidence for copy-number differences in the genomic regions flanking the 
      translocation junctions in the patient. Our efforts provide sequence-based 
      information about a schizophrenia/autism-associated translocation, and may 
      facilitate future studies investigating the genetic bases of these disorders.
FAU - Idol, Jacquelyn R
AU  - Idol JR
AD  - Genome Technology Branch, National Human Genome Research Institute, National 
      Institutes of Health, 50 South Drive, Bethesda, MD 20892, USA.
FAU - Addington, Anjene M
AU  - Addington AM
FAU - Long, Robert T
AU  - Long RT
FAU - Rapoport, Judith L
AU  - Rapoport JL
FAU - Green, Eric D
AU  - Green ED
LA  - eng
GR  - Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, N.I.H., Intramural
DEP - 20070919
PL  - United States
TA  - J Autism Dev Disord
JT  - Journal of autism and developmental disorders
JID - 7904301
RN  - EC 2.7.11.1 (BCR protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins c-bcr)
SB  - IM
MH  - Autistic Disorder/*epidemiology/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Cloning, Molecular
MH  - Cosmids/genetics
MH  - Diagnostic and Statistical Manual of Mental Disorders
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Polymerase Chain Reaction
MH  - Proto-Oncogene Proteins c-bcr/genetics
MH  - Schizophrenia, Childhood/*epidemiology/*genetics
MH  - Translocation, Genetic/*genetics
EDAT- 2007/09/20 09:00
MHDA- 2008/07/03 09:00
CRDT- 2007/09/20 09:00
PHST- 2007/02/24 00:00 [received]
PHST- 2007/07/24 00:00 [accepted]
PHST- 2007/09/20 09:00 [pubmed]
PHST- 2008/07/03 09:00 [medline]
PHST- 2007/09/20 09:00 [entrez]
AID - 10.1007/s10803-007-0435-8 [doi]
PST - ppublish
SO  - J Autism Dev Disord. 2008 Apr;38(4):668-77. doi: 10.1007/s10803-007-0435-8. Epub 
      2007 Sep 19.