Detection and validation of copy number variation in X-linked mental retardation
β Scribed by Bauters, M.; Weuts, A.; Vandewalle, J.; Nevelsteen, J.; Marynen, P.; Van Esch, H.; Froyen, G.
- Book ID
- 121741181
- Publisher
- S. Karger AG
- Year
- 2008
- Tongue
- French
- Weight
- 324 KB
- Volume
- 123
- Category
- Article
- ISSN
- 1424-8581
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## Abstract Microdeletions, either subtelomeric or interstitial, are responsible for the mental handicap in approximately 10β20% of all patients. Currently, Multiplex Ligationβdependent Probe Amplification (MLPA) is widely used to detect these small aberrations in a routine fashion. Although costβe
## Communicated by Mireille Claustres Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have co