3q29 microduplication syndrome: New evidence for the refinement of the critical region
CONCLUSION: To 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 only DGL1 and BDH1 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.PMID:36691815 | DOI:10.1002/mgg3.2130
Source: Molecular Medicine - Category: Molecular Biology Authors: Alessia Bauleo Vincenza Pace Alberto Montesanto Laura De Stefano Rossella Brando Domenica Puntorieri Luca Cento Maurizio Genuardi Elena Falcone Source Type: research