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Background  The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far.    Results  High resolution array-CGH identified 1 Mb  de novo  interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes  ATXN1 ,  DTNBP1 ,  JARID2  and  MYLIP  genes, known to play an important role in the brain, and the  GMPR  gene whose function in the nervous system is unknown.    Conclusions  We support the suggestion that  ATXN1 ,  DTNBP1 ,  JARID2  and  MYLIP  are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of  DTNBP1  and/or  JARID2  contributes to the hypotonia phenotype.

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies