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Background The use of microarray based molecular karyotyping for diagnostic testing is now common in clinical practice. A feature of this technology is an increased capacity to uncover genetic abnormalities unrelated to the original indication for the test. These incidental findings can involve the unexpected diagnosis of well recognised Mendelian genetic disorders through the rearrangement of a known disease genes. Large scale genomic rearrangements of BRCA1 make a significant contribution to the molecular pathology of familial breast and ovarian cancer and are potentially detectable by the CGH or SNP microarrays in common use.

An incidental finding of a large genomic deletion of BRCA1 on a molecular karyotype for a 5 year old child