PMID- 10450863
OWN - NLM
STAT- MEDLINE
DCOM- 19990928
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 6
DP  - 1999 Jun
TI  - Schizophrenia susceptibility gene locus at Xp22.3.
PG  - 455-60
AB  - Multiple genetic loci have been implicated in the search for schizophrenia 
      susceptibility genes, none having been proven as causal. Genetic heterogeneity is 
      probable in the polygenic etiology of schizophrenia. We report on two unrelated 
      Caucasian women with paranoid schizophrenia (meeting Diagnostic and Statistical 
      Manual of Mental Disorders (DSM IV) criteria) who have an Xp22.3 overlapping 
      deletion characterized by fluorescence in situ hybridization (FISH). Patient 1 
      was previously reported by us (Wyandt HE, Bugeau-Michaud L, Skare JC, Milunsky A. 
      Partial duplication of Xp: a case report and review of previously reported cases. 
      Amer J Med Genet 1991: 40: 280-283) to have a de novo partial duplication of Xp. 
      At that time, she was a 24-year-old woman with short stature, irregular menses, 
      other abnormalities suggestive of Turner syndrome, and paranoid schizophrenia. 
      Recently, FISH analysis demonstrated that she has an inverted duplication 
      (X)(p22.1p11.2) and a microscopic deletion (X)(p22.2p22.3) between DXS1233 and 
      DXS7108 spanning approximately 16-18 cM. Patient 2 is a 14-year-old girl with 
      short stature, learning disabilities, and paranoid schizophrenia. High-resolution 
      chromosome analysis revealed a de novo deletion involving Xp22. FISH analysis 
      showed that the deletion (X)(p22.2p22.3) spanned 10-12 cM between AFMB290XG5 and 
      DXS1060. Given that deletions of Xp22 are not common events, the occurrence of 
      two unrelated schizophrenia patients with an overlapping deletion of this region 
      would be extraordinarily rare. Hence, the deletion within Xp22.3 almost certainly 
      contains a gene involved in the pathogenesis of paranoid schizophrenia.
FAU - Milunsky, J
AU  - Milunsky J
AD  - Center for Human Genetics, and Department of Pediatrics, Boston University School 
      of Medicine, MA 02118, USA. jmilunsk@bu.edu
FAU - Huang, X L
AU  - Huang XL
FAU - Wyandt, H E
AU  - Wyandt HE
FAU - Milunsky, A
AU  - Milunsky A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosome Mapping
MH  - Female
MH  - Gene Deletion
MH  - Genetic Predisposition to Disease
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Schizophrenia/*genetics
MH  - *X Chromosome
EDAT- 1999/08/18 00:00
MHDA- 1999/08/18 00:01
CRDT- 1999/08/18 00:00
PHST- 1999/08/18 00:00 [pubmed]
PHST- 1999/08/18 00:01 [medline]
PHST- 1999/08/18 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550610.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jun;55(6):455-60. doi: 10.1034/j.1399-0004.1999.550610.x.