Genomic Aspects in the diagnosis of pediatric diseases.

DEL REY GRACIELA

Mendoza

Congreso; Congreso Latinoamericano de Genética; 2019

Sociedad Latinoamericana de Genética

In 2004, the implementation of array comparative genomic hybridization (array comparativegenome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGHand single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changesin a high resolution, and therefore microarray has been recognized as the first-tier test for patients withintellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection ofclinically relevant copy number variations in the fetus.Area covered: In this review, the authors summarize the evolution of array CGH technology from theirdiagnostic laboratory, highlighting exonic SNP arrays developed in the past decade which detect smallintragenic copy number changes as well as large DNA segments for the region of heterozygosity. Theapplications of array CGH to human diseases with different modes of inheritance with the emphasis onautosomal recessive disorders are discussed.Expert commentary: An exonic array is a powerful and most efficient clinical tool in detecting genome widesmall copy number variants in both dominant and recessive disorders. However, whole-genome sequencingmay become the single integrated platform for detection of copy number changes, single-nucleotide changesas well as balanced chromosomal rearrangements in the near future.