PMID- 17394204
OWN - NLM
STAT- MEDLINE
DCOM- 20070713
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 9
DP  - 2007 May 1
TI  - Detection of single clone deletions using array CGH: identification of 
      submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.
PG  - 925-32
AB  - Constitutional submicroscopic DNA copy number alterations have been shown to 
      cause numerous medical genetic syndromes, and are suspected to occur in a portion 
      of cases for which the causal events remain undiscovered. Array comparative 
      genomic hybridization (array CGH) allows high-throughput, high-resolution genome 
      scanning for DNA dosage aberrations and thus offers an attractive approach for 
      both clinical diagnosis and discovery efforts. Here we assess this capability by 
      applying array CGH to the analysis of copy number alterations in 44 patients with 
      a phenotype of the 22q11.2 deletion syndrome. Twenty-five patients had the 
      deletion on chromosome 22 characteristic of this syndrome as determined by 
      fluorescence in situ hybridization (FISH). The array measurements were in 
      complete concordance with the FISH analysis, supporting their diagnostic utility. 
      These data show that a genome-scanning microarray has the level of sensitivity 
      and specificity required to prospectively interrogate and identify single copy 
      number aberrations in a clinical setting. We demonstrate that such technology is 
      ideally suited for microdeletion syndromes such as 22q11.2.
FAU - Tokuyasu, Taku A
AU  - Tokuyasu TA
AD  - Comprehensive Cancer Center, University of California San Francisco, San 
      Francisco, CA 94115, USA.
FAU - Cotter, Philip D
AU  - Cotter PD
FAU - Segraves, Richard
AU  - Segraves R
FAU - Harris, Jeffrey
AU  - Harris J
FAU - Elder, Melissa E
AU  - Elder ME
FAU - Gonzales, Marcos
AU  - Gonzales M
FAU - Pinkel, Daniel
AU  - Pinkel D
FAU - Albertson, Donna G
AU  - Albertson DG
FAU - Rauen, Katherine A
AU  - Rauen KA
LA  - eng
GR  - 5 M01 RR01271/RR/NCRR NIH HHS/United States
GR  - CA83040/CA/NCI NIH HHS/United States
GR  - CA84118/CA/NCI NIH HHS/United States
GR  - HD048502/HD/NICHD NIH HHS/United States
PT  - Comparative Study
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
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  - *Chromosome Deletion
MH  - Chromosome Mapping/methods
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human
MH  - *Chromosomes, Human, Pair 22
MH  - Cloning, Molecular
MH  - DiGeorge Syndrome/*diagnosis/*genetics
MH  - Gene Dosage
MH  - Humans
MH  - Nucleic Acid Hybridization/*methods
MH  - Sensitivity and Specificity
EDAT- 2007/03/31 09:00
MHDA- 2007/07/14 09:00
CRDT- 2007/03/31 09:00
PHST- 2007/03/31 09:00 [pubmed]
PHST- 2007/07/14 09:00 [medline]
PHST- 2007/03/31 09:00 [entrez]
AID - 10.1002/ajmg.a.31662 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 May 1;143A(9):925-32. doi: 10.1002/ajmg.a.31662.