Is Array-Comparative Genomic Hybridization Useful for Children with Apparently Isolated Congenital Anomalies?
Main Article Content
To consider the utility of array-comparative genomic hybridization patients with apparently isolated congenital anomalies, 109 patients whose indication for testing was a birth defect without other concerns about syndromes or intellectual disability were selected from 1766 analyses conducted from 2009 to 2017. Twenty-nine had copy number variants more likely to contribute to the birth defect and another 80 were potentially contributory. Defects of the central nervous (23 patients), cardiovascular (20), digestive (19), and pulmonary (9) systems predominated with some high prevalence variants, traditionally reported as benign, recurring in particular anomaly cases. This small number of anomaly-associated copy number variants does not provide a definitive answer to the title question. However, the value of further studies is supported by consideration of the polygenic inheritance/multifactorial determination of congenital malformations, their derivation from common developmental fields, and their possible prediction by determination of copy number variant profiles.
Authors will be required to fill out the below copyright transfer form during the peer-review process and attach it along with their submission. In return, Knowledge Enterprises Journals grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by Knowledge Enterprises Journals.