Array CGH in the routine diagnostic work-up of mental retardation

作者：Heinrich Uwe^*; von Voss Hubertus; Rost Imma

来源：Journal of Laboratory Medicine, 2008, 32(5): 298-307.

DOI：10.1515/JLM.2008.048

• array comparative genomic hybridization (CGH)
• copy number variants (CNVs)
• fluorescence in situ hybridization (FISH)
• mental retardation
• microdeletion
• microduplication

Array comparative genomic hybridization (CGH) analysis has become an essential part of the diagnostic work-up of mental retardation in children. Using bacterial artificial chromosome (BAC)-array CGH, a follow-up examination on chromosomally inconspicuous children with mental retardation (n=194) revealed a chromosomal imbalance as the cause of the retardation in 17 patients (9%). In a small pilot study on 10 patients, we could demonstrate the benefit of applying a second, oligonucleotide-based array CGH platform as a reliable and rapid validation tool for ambiguous CGH results, in particular if duplications were suspected (cross-validation). Based on our own experience and that of other groups, a stepwise approach for the diagnosis of mental retardation in children involving a combination of BAC- and oligonucleotide-array CGH as well as fluorescence in situ hybridization (FISH) is recommended.

• 出版日期2008-10