Array-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen?
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Media type:
E-Book;
Thesis
Title:
Array-CGH bei Kindern mit Entwicklungsstörung oder geistiger Behinderung: Bei welcher Konstellation finden sich gehäuft klinisch relevante Chromosomenaberrationen?
Other titles:
Array CGH in patients with developmental or intellectual disability: are there phenotypic clues to pathogenic copy number variations?
University thesis:
Dissertation, Georg-August-Universität Göttingen, 2017
Footnote:
enth. 1 Zeitschriftenaufsatz
Description:
Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic...