Autism, mental retardation, and chromosomal abnormalities

There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.