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 16p 11.2p 12.2, and wherein the genetic disorder is not Fryns syndrome or congenital diaphragmatic hernia (CDH). Materials, such as microarrays for us e in microarray CGH, and kits for use in such methods are also provided.