title: Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. frid@interchange.ubc.ca
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
authors.forename: Agnes
authors.initials: A
authors.lastname: Baross
authors.forename: Allen D
authors.initials: AD
authors.lastname: Delaney
authors.forename: Adrian
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authors.lastname: Ally
authors.forename: Laura
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authors.lastname: Arbour
authors.forename: Linlea
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authors.lastname: Armstrong
authors.forename: Jennifer
authors.initials: J
authors.lastname: Asano
authors.forename: Dione K
authors.initials: DK
authors.lastname: Bailey
authors.forename: Sarah
authors.initials: S
authors.lastname: Barber
authors.forename: Patricia
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authors.lastname: Birch
authors.forename: Mabel
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authors.lastname: Brown-John
authors.forename: Manqiu
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authors.lastname: Cao
authors.forename: Susanna
authors.initials: S
authors.lastname: Chan
authors.forename: David L
authors.initials: DL
authors.lastname: Charest
authors.forename: Noushin
authors.initials: N
authors.lastname: Farnoud
authors.forename: Nicole
authors.initials: N
authors.lastname: Fernandes
authors.forename: Stephane
authors.initials: S
authors.lastname: Flibotte
authors.forename: Anne
authors.initials: A
authors.lastname: Go
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
authors.forename: Robert A
authors.initials: RA
authors.lastname: Holt
authors.forename: Steven J M
authors.initials: SJ
authors.lastname: Jones
authors.forename: Giulia C
authors.initials: GC
authors.lastname: Kennedy
authors.forename: Martin
authors.initials: M
authors.lastname: Krzywinski
authors.forename: Sylvie
authors.initials: S
authors.lastname: Langlois
authors.forename: Haiyan I
authors.initials: HI
authors.lastname: Li
authors.forename: Barbara C
authors.initials: BC
authors.lastname: McGillivray
authors.forename: Tarun
authors.initials: T
authors.lastname: Nayar
authors.forename: Trevor J
authors.initials: TJ
authors.lastname: Pugh
authors.forename: Evica
authors.initials: E
authors.lastname: Rajcan-Separovic
authors.forename: Jacqueline E
authors.initials: JE
authors.lastname: Schein
authors.forename: Angelique
authors.initials: A
authors.lastname: Schnerch
authors.forename: Asim
authors.initials: A
authors.lastname: Siddiqui
authors.forename: Margot I
authors.initials: MI
authors.lastname: Van Allen
authors.forename: Gary
authors.initials: G
authors.lastname: Wilson
authors.forename: Siu-Li
authors.initials: SL
authors.lastname: Yong
authors.forename: Farah
authors.initials: F
authors.lastname: Zahir
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D018628:Gene Dosage; D015894:Genome, Human; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion