METHODS AND SYSTEMS FOR THE DETECTION OF MICRODELETION AND MICRODUPLICATION SYNDROMES

摘要

Methods for diagnosing the presence or absence of a genetic disorder in a patient are provided, wherein the genetic disorder is associated with a chromosomal abnormality at 1q41q42 and/or 16p11.2p12.2, and wherein the genetic disorder is not Fryns syndrome or congenital diaphragmatic hernia (CDH). Materials, such as microarrays for use in microarray CGH, and kits for use in such methods are also provided.