Clinical genetic testing for patients with autism spectrum disorders.

ABSTRACT:

Background

Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA testing, but guidelines for chromosomal microarray analysis have not been established.

Patients and methods

A cohort of 933 patients received clinical genetic testing for a diagnosis of ASD between January 2006 and December 2008. Clinical genetic testing included G-banded karyotype, fragile X testing, and chromosomal microarray (CMA) to test for submicroscopic genomic deletions and duplications. Diagnostic yield of clinically significant genetic changes was compared.

Results

Karyotype yielded abnormal results in 19 of 852 pat

SUBMITTER: Shen Y 

PROVIDER: S-EPMC4247857 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature