Distal 2q duplication in a patient with intellectual disability.

ABSTRACT: We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.

SUBMITTER: Suzuki T 

PROVIDER: S-EPMC9649592 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature