[Application of array-based comparative genomic hybridization in precise diagnosis of unbalanced chromosome aberration].
OBJECTIVE
To evaluate the method of array-based comparative genomic hybridization (array-CGH) in identifying unbalanced chromosome aberrations.


METHODS
Four cases that could not be diagnosed by conventional cytogenetic technique were selected to undergo array-CGH analysis. DNA samples were extracted and hybridized with the Affymetrix SNP 6.0 arrays using Human Mapping SNP6.0 assay kit following the manufacturer's standard protocol. The data were analyzed by two professional software packages, GCOS and Genotyping Console.


RESULTS
By using array-CGH technique, all the four cases were diagnosed precisely through identifying two duplications and two complex derivative chromosomes.


CONCLUSIONS
Array-CGH is an effective method for whole-genome identification of unbalanced chromosomal aberrations with high sensitivity and specificity. It has a great value to investigate the correlations between genotype and phenotype in clinical service, especially in prenatal diagnosis.
Birth Health Perinatal Medicine Institute, Women and Children Medical Center of Guangzhou, Guangzhou Medical College, Guangzhou, Guangdong, 510180 P.R.China.
Fang
F
Fu
Can
C
Liao
Min
M
Pan
Cuixing
C
Yi
Han
H
Liu
Simin
S
Yuan
Shunyan
S
Hu
Huizhu
H
Zhong
Dongzhi
D
Li
D000293:Adolescent; D000328:Adult; D002477:Cells / Q000166:cytology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D055815:Young Adult