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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation |
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| Authors: | Friedman J M Baross Agnes Delaney Allen D Ally Adrian Arbour Laura Armstrong Linlea Asano Jennifer Bailey Dione K Barber Sarah Birch Patricia Brown-John Mabel Cao Manqiu Chan Susanna Charest David L Farnoud Noushin Fernandes Nicole Flibotte Stephane Go Anne Gibson William T Holt Robert A Jones Steven J M Kennedy Giulia C Krzywinski Martin Langlois Sylvie Li Haiyan I McGillivray Barbara C Nayar Tarun Pugh Trevor J Rajcan-Separovic Evica Schein Jacqueline E Schnerch Angelique Siddiqui Asim Van Allen Margot I Wilson Gary Yong Siu-Li Zahir Farah Eydoux Patrice Marra Marco A |
| Affiliation: | a Department of Medical Genetics, University of British Columbia, Vancouver b Provincial Medical Genetics Program, Vancouver c Department of Pathology and Laboratory Medicine, Vancouver d Children's &; Women's Hospital, and Genome Sciences Centre, British Columbia Cancer Agency, Vancouver e Affymetrix, Santa Clara, CA |
| 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 frequently 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 normal results of standard chromosomal analysis, by use of whole-genome sampling analysis with Affymetrix GeneChip Human Mapping 100K arrays. We found de novo deletions as small as 178 kb in eight cases, de novo duplications as small as 1.1 Mb in two cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation. |
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