Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders

Oligonucleotide array-based comparative genomic hybridization (aCGH) targeted to coding exons of genes of interest has been proven to be a valuable diagnostic tool to complement with Sanger sequencing for the detection of large deletions/duplications. We have developed a custom designed oligonucleot...

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Veröffentlicht in:	Molecular genetics and metabolism 2012-06, Vol.106 (2), p.221-230
Hauptverfasser:	Wang, Jing, Zhan, Hongli, Li, Fang-Yuan, Pursley, Amber N., Schmitt, Eric S., Wong, Lee-Jun
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Breakpoints Child Child, Preschool Chromosome Breakage Comparative Genomic Hybridization DNA Copy Number Variations DNA microarrays DNA, Mitochondrial Exons Female Gene Deletion Genome, Human Genomes genomics Genotype Humans Infant Male Metabolic diseases Metabolic Diseases - diagnosis Metabolic Diseases - genetics Metabolic disorders Mitochondria Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Mitochondrial disorders Mitochondrial DNA Molecular diagnosis Molecular Sequence Data Oligonucleotides Ornithine Carbamoyltransferase - genetics Point mutation Polymerase chain reaction Targeted aCGH Urea Urea Cycle Disorders, Inborn - genetics X chromosome Young Adult
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