Ontology highlight
ABSTRACT:
SUBMITTER: Miller DT
PROVIDER: S-EPMC2869000 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Miller David T DT Adam Margaret P MP Aradhya Swaroop S Biesecker Leslie G LG Brothman Arthur R AR Carter Nigel P NP Church Deanna M DM Crolla John A JA Eichler Evan E EE Epstein Charles J CJ Faucett W Andrew WA Feuk Lars L Friedman Jan M JM Hamosh Ada A Jackson Laird L Kaminsky Erin B EB Kok Klaas K Krantz Ian D ID Kuhn Robert M RM Lee Charles C Ostell James M JM Rosenberg Carla C Scherer Stephen W SW Spinner Nancy B NB Stavropoulos Dimitri J DJ Tepperberg James H JH Thorland Erik C EC Vermeesch Joris R JR Waggoner Darrel J DJ Watson Michael S MS Martin Christa Lese CL Ledbetter David H DH
American journal of human genetics 20100501 5
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, includi ...[more]