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Abstract

Rapid incorporation of microarray analysis/aCGH for studies of children with developmental disabilities and its endorsement as a first-tier test for these children [1] has yielded a vast number of subtle chromosome changes that were unseen by routine karyotyping.

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Wyandt, H.E., Wilson, G.N., Tonk, V.S. (2017). A CNV Catalogue. In: Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis. Springer, Singapore. https://doi.org/10.1007/978-981-10-3035-2_10

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