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Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 J+Pediatr+Genet 2012 ; 1 (2): 143-7 Nephropedia Template TP
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Duplication 3q13 11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints #MMPMID27625815
Eggermann T; Spengler S; Gamerdinger U; Denecke B; Grimm S; Grimm M; Schubert R; Schwanitz G
J Pediatr Genet 2012[Jun]; 1 (2): 143-7 PMID27625815show ga
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.