Array-CGH. Erfahrungen aus Schleswig-Holstein

Translated title of the contribution: Array CGH. Experience gained in Schleswig-Holstein

A. Caliebe*, K. Platzer, L. Argyriou, S. Bens, Y. Hellenbroich, N. Husemeyer, I. Nagel, J. I. Martin-Subero, P. Sporns, I. Stefanova, H. Tönnies, I. Vater, J. Weimer, R. Siebert, G. Gillessen-Kaesbach

*Corresponding author for this work
1 Citation (Scopus)

Abstract

We report on our experience with array CGH analysis on 1310 samples over the last 5 years. The number of copy number variants (CNV) rises as the resolution of the arrays increases; however, the relevance of some of these findings is difficult to evaluate. Deletion or duplication in 16p11.2 was the most frequently diagnosed pathogenic CNV. Clinically relevant findings which were not directly connected to the query were observed in about 0.2% of patients.

Translated title of the contributionArray CGH. Experience gained in Schleswig-Holstein
Original languageGerman
JournalMedizinische Genetik
Volume24
Issue number2
Pages (from-to)99-107
Number of pages9
ISSN0936-5931
DOIs
Publication statusPublished - 06.2012

Research Areas and Centers

  • Research Area: Medical Genetics

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