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


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 (2012). Molecular Karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. Journal of Pediatrics, 161(5):933-942.e1.

Abstract

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 copy number variations with sizes ranging from 672 kb to 9.158 Mb were identified. The deletions in 1q21, 15q26, 17p13, and 22q11 were associated with known microdeletion syndromes with overlapping features with SRS. The duplications in 22q13 and Xq25q27 represent unique novel copy number variations but have an obvious influence on the phenotype. In 5 additional patients, the pathogenetic relevance of the detected variants remained unclear. CONCLUSION: Pathogenic submicroscopic imbalances were detectable in a significant proportion of patients with short stature and features reminiscent of SRS. Therefore, molecular karyotyping should be implemented in routine diagnostics for growth-retarded patients with even slight dysmorphisms suggestive for SRS.

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 copy number variations with sizes ranging from 672 kb to 9.158 Mb were identified. The deletions in 1q21, 15q26, 17p13, and 22q11 were associated with known microdeletion syndromes with overlapping features with SRS. The duplications in 22q13 and Xq25q27 represent unique novel copy number variations but have an obvious influence on the phenotype. In 5 additional patients, the pathogenetic relevance of the detected variants remained unclear. CONCLUSION: Pathogenic submicroscopic imbalances were detectable in a significant proportion of patients with short stature and features reminiscent of SRS. Therefore, molecular karyotyping should be implemented in routine diagnostics for growth-retarded patients with even slight dysmorphisms suggestive for SRS.

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Additional indexing

Contributors:Baudis, M
Item Type:Journal Article, refereed, original work
Communities & Collections:07 Faculty of Science > Institute of Molecular Life Sciences
Dewey Decimal Classification:570 Life sciences; biology
Language:English
Date:2012
Deposited On:10 Jul 2012 09:05
Last Modified:05 Apr 2016 15:52
Publisher:Elsevier
ISSN:0022-3476
Publisher DOI:10.1016/j.jpeds.2012.04.045
PubMed ID:22683032
Permanent URL: http://doi.org/10.5167/uzh-63250

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