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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genomic imbalances in mental retardation
M Kriek1, S J White, M C Bouma
1Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands.
Journal of Medical Genetics
|April 3, 2004
Summary
Multiplex Amplifiable Probe Hybridisation (MAPH) detected numerous chromosomal rearrangements in developmental delay patients, with most missed by standard methods. This supports whole genome screening for identifying genes linked to mental retardation.
Area of Science:
- Genetics
- Developmental Biology
- Medical Diagnostics
Background:
- Approximately 1% of newborns have detectable chromosomal rearrangements.
- Submicroscopic deletions or duplications are suspected causes for many developmental delays.
- Current techniques vary in efficiency for detecting these submicroscopic changes.
Purpose of the Study:
- To implement Multiplex Amplifiable Probe Hybridisation (MAPH) for detecting chromosomal rearrangements in mental retardation (MR) patients.
- To identify known and novel rearranged regions associated with MR.
- To assess the utility of MAPH in diagnosing developmental delays.
Main Methods:
- MAPH was used to screen 188 developmentally delayed patients.
- 162 loci were tested per patient, focusing on known MR regions and subtelomeric/pericentromeric areas.
- Over 30,000 screens for deletions and duplications were performed.
Main Results:
- 19 rearrangements were detected in 188 patients.
- Approximately 65% of detected rearrangements were missed by conventional cytogenetics.
- A significant 46% of identified rearrangements were interstitial, suggesting more could be found with broader screening.
Conclusions:
- Results support whole genome screening in developmental delay populations.
- MAPH offers a simple, high-throughput, high-resolution method for detecting rearrangements.
- MAPH can aid in identifying specific genes responsible for mental retardation.
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