Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.
Genet Med
; 10(4): 262-6, 2008 Apr.
Article
de En
| MEDLINE
| ID: mdl-18414209
ABSTRACT
PURPOSE:
Cytogenetic investigations are useful for etiologic determinations of mental retardation, developmental delay, multiple congenital anomalies, and pregnancy complications; however, the causes remain elusive in a majority of cases despite high-resolution cytogenetic studies and multiple fluorescence in situ hybridization examinations. Array-based comparative genomic hybridization has the ability to examine the genome at a higher resolution and may yield an increased detection of genetic abnormalities. The purpose of this study was to assess the use of array-based comparative genomic hybridization in a clinical genetics setting.METHODS:
DNA from 1176 patients was analyzed using a bacterial artificial chromosome array-based comparative genomic hybridization platform. All abnormal cases were confirmed by fluorescence in situ hybridization and parental studies were completed when possible.RESULTS:
Of the 1176 patients included in this survey, 163 showed a genomic imbalance identified by array-based comparative genomic hybridization. Of these 163 cases, 116 had a clinically relevant genetic abnormality. A total of 9.8% (116 of 1176 cases) were determined to exhibit a causative genomic imbalance. Twenty-five of the 116 abnormal cases had a previously identified cytogenetic abnormality yielding an increased detection rate of 7.9% (91 of 1146) in cases with normal or no cytogenetics.CONCLUSION:
Array-based comparative genomic hybridization increases the overall abnormality detection rate, thus improving the diagnostic potential of clinical cytogenetics investigations.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Malformations multiples
/
Algorithmes
/
Aberrations des chromosomes
/
Cytogénétique
/
Analyse sur microréseau
/
Hybridation d'acides nucléiques
Limites:
Humans
Langue:
En
Journal:
Genet Med
Sujet du journal:
GENETICA MEDICA
Année:
2008
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique