Original ArticleMolecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
Section snippets
Methods
The study population consisted of 41 patients with SRS features [without ICR1 (epi)mutations and upd(7)mat] and their parents. All patients were initially referred as SRS for routine diagnostic testing because they had intrauterine and/or postnatal growth retardation and suggestive clinical features. Genomic DNA was isolated from peripheral lymphocyte cells by salting-out.11 The study was approved by the ethical committee of the University Hospital Aachen. Appropriate informed consent was
Results
We detected an average of 8 common CNVs per patient, which were either registered in the Database of Genomic Variants database or had been observed in our own control cohort.
So far, unknown CNVs were detected in 24 of the 41 patients with SRS (Figure 1). Eleven of the so far novel CNVs were inherited from an unaffected parent and therefore were more likely to represent nonpathogenic changes. This group included a patient with a maternally inherited 15q13 microdeletion, which has recently been
Discussion
As a uniform and standardized classification system for SRS is lacking, and the clinical spectrum comprises many unspecific features overlapping with other congenital disorders, our cohort consists of a clinically as well as genetically heterogeneous group. Indeed, we have to consider that a significant fraction of our patients was referred with the clinical diagnosis of SRS but showed only slight compatible features. To compare these heterogeneous phenotypes of our patients, we therefore
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Supported by Bundesministerium für Bildung und Forschung (Network “Imprinting Diseases”: 01GM0884) and an investigator-initiated, unrestricted research grant from Merck-Serono GmbH. M.G. has a scholarship of the German exchange service. The authors declare no conflicts of interest.