Journal
HUMAN MUTATION
Volume 27, Issue 5, Pages 467-473Publisher
WILEY
DOI: 10.1002/humu.20322
Keywords
microarray; SNP; oligonucleotide; copy number alteration; chromosomal rearrangement; multiple congenital anomalies; MCA
Categories
Funding
- NICHD NIH HHS [HD26979] Funding Source: Medline
- NIDCR NIH HHS [DE015874] Funding Source: Medline
- NIGMS NIH HHS [GM64725] Funding Source: Medline
Ask authors/readers for more resources
Chromosomal rearrangemetits such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytogenetic tests currently used for the detection of such chromosomal rearrangements are low resolution and limited coverage of the genome. Thus, it is likely that children with MCA may have submicroscopic chromosomal rearrangements that are not detectable by current techniques. We report the use of a commercially available, oligonucleotide-based microarray for genome-wide analysis of copy number alterations. First, we validated the microarray in patients with known chromosomal rearrangements. Next, we identified previously undetected, de novo chromosomal deletions in patients with MCA who have had a normal high-resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) analysis. These findings indicate that high-density, oligonucleotide-based microarrays can be successfully used as tools for the detection of chromosomal rearrangement in clinical samples. Their higher resolution and commercial availability make this type of microarray highly desirable for application in the diagnosis of patients with multiple congenital defects.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available