id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-015935-r2wd1yfa	Sokol, Deborah K.	The Genetics of Autism	2011-02-10		.txt	text/plain	11276	598	45	Another offshoot of microarray technology is submicroscopic chromosome copy number variation (CNV) analysis, in which deletions or duplications involving > 1-kb DNA have been detected in patients with mental retardation, autism, and multiple congenital anomalies. Technology compatible with this approach includes cytogenetics (including karyotyping and FISH), gene association studies (analysis of genes and protein system from less complex genetic syndromes similar to autism such as Rett and fragile X syndromes), linkage studies (including genome screens in affected sibling pairs), microarray technology, and CNV analysis. Cytogenetic approaches provided the first evidence for an autism gene 40 years ago when Lubs (1969) identified an abnormal or "fragile" site on the long arm of chromosome X in four males with mental retardation, leading to the recognition of fragile X syndrome (FXS). As chromosome 7q has been discussed in section "Cytogenetics: Rare Mutations," chromosome 2 and then 17q11 will follow the description of how linkage studies led to the discovery of the gene loci for a syndromic form of autism: tuberous sclerosis complex (TSC).	./cache/cord-015935-r2wd1yfa.txt	./txt/cord-015935-r2wd1yfa.txt