Affiliations: Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany | Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany | Interdisciplinary Centre for Clinical Research, IZKF “BIOMAT”, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany | Institute of Human Genetics, University of Bonn, Bonn, Germany | Praxis für Humangenetik, Köln, Germany
Note: [] Corresponding author: Thomas Eggermann, Institute of Human Genetics, Pauwelsstr. 30, 52074, Aachen, Germany. Tel.: +49 241 8088008; Fax: +49 241 8082394; E-mail: [email protected].
Abstract: In 2006, we reported the first case with a pure duplication of proximal 3q. In these rare aberrations, detailed clinical and developmental investigations at different ages are required to provide sufficient phenotypic documentation. Clinical and psychological differences were therefore regularly documented in our case. Supplemental genetic investigations comprised conventional karyotyping, fluorescence in-situ hybridization, single nucleotide polymorphism array analysis, and microsatellite typing. Thus, the exact position and extension of the duplication (3q13.11q23), the size (35.6 Mb), and the paternal origin could be determined. The development of our patient was followed up in detail over a period of 7.5 yr and thus enabled specific characterization of the phenotype of the patient.
