Transcription profiling of human children with mental retardation and immediate family members

ABSTRACT: The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy number variants. We studied 100 children with idiopathic mental retardation and their parents using the Affymetrix GeneChip® Mapping 100K Assay and found de novo duplications as small as 1.1 Mb in three cases, de novo deletions as small as 178 kb in eight cases, and unsuspected mosaic trisomy 9 in another case. This technolog

ORGANISM(S): Homo sapiens

DISEASE(S): normal

SUBMITTER: BCGSC BC Cancer Agency 

PROVIDER: E-GEOD-7226 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress