Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

Diane L. Pickering, James D Eudy, Ann Haskins Olney, Bhavana J Dave, Denae Golden, Jadd Stevens, Warren G. Sanger

Research output: Contribution to journalArticle

41 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)262-266
Number of pages5
JournalGenetics in Medicine
Volume10
Issue number4
DOIs
StatePublished - Apr 1 2008

Fingerprint

Comparative Genomic Hybridization
Cytogenetics
Fluorescence In Situ Hybridization
Bacterial Artificial Chromosomes
Aptitude
Pregnancy Complications
Chromosome Aberrations
Intellectual Disability
Genome
DNA

Keywords

  • Clinical genetics
  • Cytogenetics
  • aCGH

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations. / Pickering, Diane L.; Eudy, James D; Olney, Ann Haskins; Dave, Bhavana J; Golden, Denae; Stevens, Jadd; Sanger, Warren G.

In: Genetics in Medicine, Vol. 10, No. 4, 01.04.2008, p. 262-266.

Research output: Contribution to journalArticle

Pickering, Diane L. ; Eudy, James D ; Olney, Ann Haskins ; Dave, Bhavana J ; Golden, Denae ; Stevens, Jadd ; Sanger, Warren G. / Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations. In: Genetics in Medicine. 2008 ; Vol. 10, No. 4. pp. 262-266.
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