Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood. [electronic resource]
- European journal of medical genetics
- 264-6 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2014.03.001 doi
Adult Cells, Cultured Charcot-Marie-Tooth Disease--blood Chromosome Duplication Chromosomes, Human, Pair 12--genetics Chromosomes, Human, Pair 17--genetics Comparative Genomic Hybridization--methods DNA Copy Number Variations Fibroblasts--metabolism Humans In Situ Hybridization, Fluorescence--methods Male Microarray Analysis--methods Mosaicism Phenotype Polymorphism, Single Nucleotide Reproducibility of Results Skin--pathology