3q29 microduplication syndrome: New evidence for the refinement of the critical region

ConclusionTo the best of our knowledge, one of the family members here analyzed is the second reported case of a patient carrying a small 3q29 microduplication including onlyDGL1 andBDH1 genes and without any additional genetic aberration. The recognition of the clinical spectrum in patients with the critical region of overlap associated with the 3q29 duplication syndrome should prove valuable for predicting outcomes and providing more informed genetic counseling to patients with duplications in this region.

Source: Molecular Genetics & Genomic Medicine - January 24, 2023 Category: Genetics & Stem Cells Authors: Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De  Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone Tags: CLINICAL REPORT Source Type: research