A PATIENT WITH AUTISTIC DISORDER AND A 20 22 CHROMOSOMAL TRANSLOCATION/

The case history of a 3-year-old boy without speech and who met 10 cri teria of an autistic condition (DSM-IV) (American Psychiatric Associat ion 1994) is reported. Psychometric evaluation, excluding the verbal s cale, resulted in an IQ score of 56. The cytogenetic study showed a 20 /22 translocation and an interstitial deletion within the region 22q11 : 45,XY, -22, +der (20), t(20;22) (q13.3;q11.2), which was confirmed b y fluorescence in situ hybridisation (FISH). Although deletions at 22q 11 are responsible for the DiGeorge syndrome; clinical, metabolic, san d neurological image studies of the patient were inconsistent with thi s syndrome. In the clinical examination the patient presented with a m ildly dysmorphic facies, pectus excavatum, and a short thumb. A Tc-99m HMPAO brain perfusion SPECT showed a hypoperfusion of the left tempor oparietal cortex. As there have been no previous reports of autistic p atients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism o r as accompanying factors.