An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies.

Abstract excerpt

A boy with autistic spectrum disorder without dysmorphisms was found to have a chromosome duplication of part of band 13q21. His mother and grandfather both of normal intellect had the same chromosomal duplication. Comparison was made with the Chromosome anomaly database www.som.soton.ac.uk/research/geneticsdiv/anomaly%20register which revealed similar cases. Mapping on DNA microarray for the proband and mother...

Topics

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

• Share to Aneuploidy
• Share to Autistic Disorder