Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies.

Abstract excerpt

Genetic diseases arising from microdeletions and microduplications lead to copy number alterations of genomic regions containing one or more genes. Clinically, these rearrangements may be detected by routine cytogenetic testing, which may include karyotype analysis, subtelomeric analysis with fluorescence in situ hybridization, and/or fluorescence in situ hybridization directed at known chromosomal...

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