Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints.
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.
Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Thomas
T
Eggermann
Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Sabrina
S
Spengler
Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany.
Ulrike
U
Gamerdinger
Interdisciplinary Centre for Clinical Research, IZKF "BIOMAT", Rheinisch-Westfälische Technische Hochschule, Aachen, Germany.
Bernd
B
Denecke
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Silke
S
Grimm
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Manfred
M
Grimm
Praxis für Humangenetik, Köln, Germany.
Regine
R
Schubert
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Gesa
G
Schwanitz
Duplication 3q13.11q23; de novo; developmental differences; longitudinal studies; phenotype specification