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Posted by HeikoRunz on 14 Mar 2014 at 13:05 GMT
Balanced chromosome abnormalities (BCAs) are among the most frequent chromosome abnormalities, but their detection and the interpretation whether BCAs relate to a phenotype remain challenging. Recently, genome-wide mate-pair library sequencing has been introduced as a powerful strategy to characterize the breakpoints of clinically-identified BCAs at nucleotide resolution or query the genome for submicroscopic structural variation at relatively low costs. Importantly, mate-pair library sequencing has also revealed a previously underrated complexity of chromosome rearrangements in many BCA carriers. This implies that in some patients disruption of genes outside of clinically-identified BCAs could be responsible for their respective phenotypes. Here we present such a situation with a cryptic BCA that disrupts the brain transcription factor and psychosis-associated gene ZNF804A in a patient with unclear neurodevelopmental disease (NDD) and complex de novo BCAs at the karyotype level. Importantly, disruption of ZNF804A would have been undetected in this patient if we had confined our analyses to the clinically predicted BCA breakpoints. Our study highlights the advantages of further investigation of structural variation in karyotypically abnormal patients. WE hope you'll like it and are happy about your comments.