Article
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
American journal of medical genetics. Part A - 1 Apr 2015
Guida Valentina, Sinibaldi Lorenzo, Pagnoni Mario, Bernardini Laura, Loddo Sara, Margiotti Katia, Digilio Maria Cristina, Fadda Maria Teresa, Dallapiccola Bruno, Iannetti Giorgio, Alessandro De Luca
Abstract excerpt
Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first and second branchial arches. Main clinical characteristics include defects of the aural, oral, mandibular, and vertebral development. Anomalies of the cardiac, pulmonary, renal, skeletal, and central nervous systems have also been described. We report...
Topics
- Adult
- Chromosome Disorders
- Chromosome Duplication
- Goldenhar Syndrome
- Humans
- Male
- Molecular Diagnostic Techniques
- Polymorphism, Single Nucleotide
- Radiography