Ontology highlight
ABSTRACT:
SUBMITTER: Streata I
PROVIDER: S-EPMC7445637 | biostudies-literature | 2020 Apr-Jun
REPOSITORIES: biostudies-literature
Streata Ioana I Riza Anca-Lelia AL Sosoi Simona S Burada Florin F Ioana Mihai M
Current health sciences journal 20200401 2
3q29 microduplication syndrome is characterized by widely variable clinical presentation, but generally mild features. Developmental delay, particularly speech, and intellectual disability, eye abnormalities and heart defects are more frequently seen in affected individuals, although it is difficult to delineate a recognisable pattern. We describe a clinical case with a 1.65Mb duplication at 3q29 (chr3:195,979,518-197,638,922, GRCh37) identified by aCGH. The uncharacteristically late onset of th ...[more]