Benign Copy Number Changes in Clinical Cytogenetic Diagnostics by Array CGH

ABSTRACT: A database of apparently benign copy number variants (bCNVs) detected by a Spectral Genomics Inc./PerkinElmer BAC array platform has been maintained through the University of Utah Comparative Genomic Hybridization laboratory since 2005. The target population for this database represents 1275 patients with abnormal phenotypes, primarily children referred for developmental delay and mental retardation. These bCNVs are independent of any identified copy number abnormality detected. The most common 35 bCNVs observed and their frequencies are reported here, and a subset of ten of the patients studied was evaluated on a new oligonucleotide CNV array set designed by Agilent Technologies. There was a 76% concordance of calls detected by both array platforms in the same patients; the discordant

ORGANISM(S): Homo sapiens

SUBMITTER: Peter Tsang 

PROVIDER: E-GEOD-11815 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress