RT Journal Article
SR Electronic
T1 Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 1
OP 8
DO 10.1136/jmg.2008.060871
VO 46
IS 1
A1 C Lintas
A1 A M Persico
YR 2009
UL http://jmg.bmj.com/content/46/1/1.abstract
AB Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.