Article
High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.
European journal of medical genetics - 1 Jan 2000
Hermsen Mario A J A, Tijssen Marianne, Acero Ines Hernando, Meijer Gerrit A, Ylstra Bauke, Toral Joaquín Fernández
Abstract excerpt
A detailed analysis of the constitutional chromosomal changes in two pediatric patients was performed using high resolution genetic analysis techniques, microarray comparative genomic hybridization (array CGH) and multiplex ligation-dependent probe amplification (MLPA) as well as FISH. The aim was to come to a more precise characterization of the genotype/phenotype relationship. Case 1 was a girl of 25 months,...
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