PMID- 15754353
OWN - NLM
STAT- MEDLINE
DCOM- 20050509
LR  - 20210303
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 134
IP  - 3
DP  - 2005 Apr 30
TI  - Rapid array-based genomic characterization of a subtle structural abnormality: a 
      patient with psychosis and der(18)t(5;18)(p14.1;p11.23).
PG  - 282-9
AB  - Array-based copy number analysis has recently emerged as a rapid means of mapping 
      complex and/or subtle chromosomal abnormalities. We have compared two such 
      techniques, using bacterial artificial chromosome (BAC) and single nucleotide 
      polymorphism (SNP) arrays in the evaluation of a 45-year-old woman with 
      dysmorphic features, mental retardation, psychosis, and an unbalanced derivative 
      chromosome 18, (46,XX, der(18)t(18;?)(p12;?)). Both array-based methods 
      demonstrated that the additional material on chromosome 18 was of 5p origin. The 
      5p duplication mapped telomeric to 25.320 Mb (BAC array) and 25.607 Mb (SNP 
      array), corresponding to the band 5p14.1. Both BAC and SNP arrays also showed a 
      deletion involving chromosome 18p extending telomeric from 8.437 Mb (BAC array) 
      and 8.352 Mb (SNP array), corresponding to the band 18p11.23. Molecular 
      cytogenetic mapping using fluorescence in situ hybridization (FISH) supported the 
      array findings and further refined the breakpoint regions, confirming that the 
      BAC and SNP chips were both useful in this regard. Both case reports and linkage 
      analyses have implicated these chromosomal intervals in psychosis. The 
      array-based experiments were completed over the course of several days. While 
      these methods do not eliminate the requirement for traditional fine-mapping, they 
      provide an efficient approach to identifying the origin and extent of deleted and 
      duplicated material in chromosomal rearrangements.
FAU - Drazinic, Carolyn M
AU  - Drazinic CM
AD  - Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
FAU - Ercan-Sencicek, Adife G
AU  - Ercan-Sencicek AG
FAU - Gault, Laura M
AU  - Gault LM
FAU - Hisama, Fuki M
AU  - Hisama FM
FAU - Qumsiyeh, Mazin B
AU  - Qumsiyeh MB
FAU - Nowak, Norma J
AU  - Nowak NJ
FAU - Cubells, Joseph F
AU  - Cubells JF
FAU - State, Matthew W
AU  - State MW
LA  - eng
GR  - P30 CA16056/CA/NCI NIH HHS/United States
GR  - T32 MH019961/MH/NIMH NIH HHS/United States
GR  - T32-MH19961/MH/NIMH NIH HHS/United States
GR  - CA80270/CA/NCI NIH HHS/United States
GR  - K02 DA 015766/DA/NIDA NIH HHS/United States
GR  - RR-16118/RR/NCRR NIH HHS/United States
GR  - 5 T32-MH18268/MH/NIMH NIH HHS/United States
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Chromosome Banding
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Magnetic Resonance Imaging
MH  - Middle Aged
MH  - Nucleic Acid Hybridization/*methods
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Psychotic Disorders/*genetics/pathology
MH  - *Translocation, Genetic
EDAT- 2005/03/09 09:00
MHDA- 2005/05/10 09:00
CRDT- 2005/03/09 09:00
PHST- 2005/03/09 09:00 [pubmed]
PHST- 2005/05/10 09:00 [medline]
PHST- 2005/03/09 09:00 [entrez]
AID - 10.1002/ajmg.a.30616 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Apr 30;134(3):282-9. doi: 10.1002/ajmg.a.30616.