Proximal 19p13.3 microduplication syndrome is a rare neurodevelopmental disorder characterised by developmental delay, intellectual disability, growth impairment and facial dysmorphism. However, recurrent der(17)-associated 19p13.3 duplication with concomitant 17q25.3 deletion has not been systematically characterised. We describe 15 affected individuals from 11 apparently unrelated families sharing a highly recognisable phenotype and the same recurrent der(17)t(17;19)(q25;p13.3) rearrangement. The shared haplotypic interval adjacent to the recurrent breakpoint, together with geographical clustering, supports a founder effect and is consistent with a common ancestral origin in the Upper Tigris Basin. Recognition of this recurrent der(17)-associated clinical-genomic syndrome may facilitate earlier diagnosis, targeted cytogenetic testing and more accurate genetic counselling for affected families and balanced translocation carriers.
Rearrangement-associated unbalanced chromosomal syndromes arise when a child inherits both duplicated and deleted segments from a parent carrying a balanced…