They added that they are following the offspring from the pregnancies in which copy-number variants were discovered, to establish what, if any, phenotypes develop. They are particularly interested in linking specific chromosomal abnormalities with later diagnoses of developmental delay.
This study was supported by the National Institute of Child Health and Human Development. Agilent Technologies and Affymetrix donated the microarrays and reagents used in the study, and Integrated Genetics was reimbursed for the costs of handling samples and managing cytogenetic data. Dr. Wapner reported no potential financial conflicts of interest, and his associates reported numerous ties to industry sources.