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J Pediatr Genet 2012; 01(02): 143-147
DOI: 10.3233/PGE-2012-023
Georg Thieme Verlag KG Stuttgart – New York

Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints

Thomas Eggermann
a   Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany
,
Sabrina Spengler
a   Institute of Human Genetics, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany
,
Ulrike Gamerdinger
b   Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany
,
Bernd Denecke
c   Interdisciplinary Centre for Clinical Research, IZKF “BIOMAT”, Rheinisch-Westfälische Technische Hochschule, Aachen, Germany
,
Silke Grimm
d   Institute of Human Genetics, University of Bonn, Bonn, Germany
,
Manfred Grimm
d   Institute of Human Genetics, University of Bonn, Bonn, Germany
,
Regine Schubert
e   Praxis für Humangenetik, Köln, Germany
,
Gesa Schwanitz
d   Institute of Human Genetics, University of Bonn, Bonn, Germany
› Author Affiliations
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Further Information

Publication History

25 February 2011

16 June 2011

Publication Date:
27 July 2015 (online)

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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.

Keywords

Duplication 3q13.11q23 - de novo - longitudinal studies - phenotype specification - developmental differences