title: An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.
abstract: 3q26.33-3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.
authors.affiliation: Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia.
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
authors.affiliation: Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia.
authors.forename: Sander
authors.initials: S
authors.lastname: Pajusalu
authors.affiliation: Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Institute of Molecular and Cell Biology University of Tartu Tartu Estonia.
authors.forename: Olga
authors.initials: O
authors.lastname: Zilina
authors.affiliation: Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia; Department of Pediatrics Institute of Clinical Medicine University of Tartu Tartu Estonia; Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia.
authors.forename: Tiia
authors.initials: T
authors.lastname: Reimand
authors.affiliation: Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia.
authors.forename: Riina
authors.initials: R
authors.lastname: Žordania
keywords: 3q26.33‐3q27.2 microdeletion; 3q27.3 microdeletion; Ohdo syndrome; blepharophimosis; intellectual disability