Chromosomal Microarray in the New High-Throughput Technological and Bioinformatic Era

  • Susan MathewEmail author


Conventional karyotyping is the gold standard for identifying chromosomal abnormalities in human diseases. The advances in DNA technology and molecular genetics resulted in the introduction of fluorescence in situ hybridization and other technologies in cytogenetics. Chromosomal microarrays have taken the field of cytogenetics to the next level by identifying microdeletions, microduplications, copy number variants and loss of heterozygosity. This chapter explores its applications and its profound impact on the diagnosis and prognosis of individuals with unexplained developmental delay/intellectual delay, autism spectral disorders and multiple congenital abnormalities. This chapter also highlights its applications in prenatal diagnosis and cancer.


Chromosomal microarray Microdeletion Microduplication Prenatal diagnosis Cancer diagnostics Congenital malformations Copy number variants 



Array comparative genomic hybridization


Autism spectrum disorders


Chromosomal microarray analysis


Copy number variants


Developmental delay


Fluorescence in situ hybridization


Intellectual disability


Long contiguous stretches of homozygosity


Loss of heterozygosity


Multiple congenital anomalies


Next-generation sequencing


Variants in susceptibility loci


Variants of uncertain significance


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Authors and Affiliations

  1. 1.Cytogenetics Laboratory, Department of Pathology and Laboratory MedicineWeill Cornell MedicineNew YorkUSA

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