Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Top Cited Papers
Open Access
- 1 April 2004
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (4), 241-248
- https://doi.org/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.Keywords
This publication has 32 references indexed in Scilit:
- Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarraysJournal of Medical Genetics, 2003
- Genomic microarrays in human genetic disease and cancerHuman Molecular Genetics, 2003
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classesNature, 2003
- Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the SyndromeAmerican Journal of Human Genetics, 2003
- Usefulness of high‐resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalitiesAmerican Journal of Medical Genetics, 2002
- A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental RetardationAmerican Journal of Human Genetics, 2000
- Two cases of interstitial deletion 1p.Journal of Medical Genetics, 1991
- A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2qAmerican Journal of Medical Genetics, 1989
- Interstitial deletion 1p in a 30 year old woman.Journal of Medical Genetics, 1987
- De novo interstitial deletion del(1)(p21p32).Journal of Medical Genetics, 1979