[MS9] Morning Seminar 9: Array CGH

[MS9-4A-1] Overview of Chromosomal Microarray Testing

^○Toshiyuki Yamamoto (Institute of Medical Genetics, Tokyo Women’s Medical University, Japan)

Chromosomal microarray testing is now established as a standard chromosomal analysis method, especially for microdeletions/ microduplications. Since microarray was introduced to the clinical site, a lot of new microdeletion/ microduplication syndromes have been identified. Most of these syndromes are related to non-specific neurodevelopmental disability, including autism spectrum disorder and epilepsy. Accumulation of the genotypic and phenotypic information narrowed the genes which contribute to the clinical features. The mechanisms of chromosomal rearrangements; such as translocations, tandem duplications, inverted-duplication-deletion, DUP-TRP/INV-DUP; have also been revealed by chromosomal microarray testing. Now, genomic copy number aberrations can be detected by secondary usage of the data provided by next-generation sequencing; however, such findings should be re-confirmed by chromosomal microarray testing. The knowledges obtained by the spread usage of chromosomal microarray testing will be overviewed.