Secondary complex chromosome rearrangement identified by chromosome analysis and FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP array analysis.

Abstract excerpt

Microarray analysis is used to detect small copy number changes (deletions and duplications) that may be associated with genetic syndromes and phenotypic abnormalities. However, there are limitations to what microarrays are able to detect. We present a patient referred for microarray in whom chromosome analysis identified a more complex structural rearrangement than was indicated by the microarray. Our studies...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosome Disorders
• Share to Chromosomes, Human, Pair 11