Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist

C. Lintas, A. M. Persico

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalJournal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2009

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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