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Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41(4):241-8doi: 10.1136/jmg.2003.017731.
Shaw-Smith, C., Redon, R., Rickman, L., Rio, M., Willatt, L., Fiegler, H., Firth, H., Sanlaville, D., Winter, R., Colleaux, L., Bobrow, M., & Carter, N. P. (2004). Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. Journal of medical genetics, 41(4), 241-8. https://doi.org/10.1136/jmg.2003.017731
Shaw-Smith, C, et al. "Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features." Journal of medical genetics vol. 41,4 (2004): 241-8. doi: https://doi.org/10.1136/jmg.2003.017731
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. PMID: 15060094; PMCID: PMC1735726.
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J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731.

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Journal of medical genetics

C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, D Sanlaville, R Winter, L Colleaux, M Bobrow, N P Carter

Affiliations

  1. University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Hills Road, Cambridge, UK.

PMID: 15060094 PMCID: PMC1735726 DOI: 10.1136/jmg.2003.017731

Abstract

The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect subtle chromosome rearrangements (less than 5 Mb). The presence of subtle DNA copy number changes was investigated by array-CGH in 50 patients with learning disability and dysmorphism, employing a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Twelve copy number abnormalities were identified in 12 patients (24% of the total): seven deletions (six apparently de novo and one inherited from a phenotypically normal parent) and five duplications (one de novo and four inherited from phenotypically normal parents). Altered segments ranged in size from those involving a single clone to regions as large as 14 Mb. No recurrent deletion or duplication was identified within this cohort of patients. On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability.

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