Prenatal diagnosis of interstitially satellited 6p

Abstract

The present case provides evidence that a de novo interstitial insertion of a NOR into a nonacrocentric chromosome can be derived from a parental balanced reciprocal translocation involving the satellite stalk region of an acrocentric chromosome. The NOR-inserted chromosome seems to be a harmless variant. However, a de novo interstitial NOR translocation can be pathogenic if there is genomic disruption at the site of translocation, which should be included in genetic counseling and perinatal investigation.