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Article

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

The Journal of pediatrics - 1 Nov 2012

Spengler Sabrina, Begemann Matthias, Ortiz Brüchle Nadina, Baudis Michael, Denecke Bernd, Kroisel Peter Michael, Oehl-Jaschkowitz Barbara, Schulze Bernd, Raabe-Meyer Gisela, Spaich Christiane, Blümel Peter, Jauch Anna, Moog Ute, Zerres Klaus, Eggermann Thomas

Abstract excerpt

OBJECTIVE: To determine the contribution of submicroscopic chromosomal imbalances to the etiology of Silver-Russell syndrome (SRS) and SRS-like phenotypes. STUDY DESIGN: We performed molecular karyotyping in 41 patients with SRS or SRS-like features without known chromosome 7 and 11 defects using the Affymetrix SNP Array 6.0 system (Affymetrix, High Wycombe, United Kingdom). RESULTS: In 8 patients, pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22683032
DOI: 10.1016/j.jpeds.2012.04.045

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