Association of Autism, Retinoblastoma, and Reduced Esterase D Activity

1 June 1988

journal article
research article
Published by American Medical Association (AMA) in Archives of General Psychiatry

Vol. 45 (6) , 600
https://doi.org/10.1001/archpsyc.1988.01800300098019

Abstract

To the Editor.— We wish to report the simultaneous occurrence of autism, sporadic retinoblastoma, reduced esterase D activity, and a deletion on chromosome 13 in a 19-year-old woman with an autistic maternal second cousin. The patient was born following an apparently normal pregnancy and delivery. She was identified as developmentally delayed by the end of her first year of life. At age 2Vz years, a retinoblastoma of the right eye was removed by enucleation. No radiation was given, and her left eye remained uninvolved. The diagnosis of autism was established by repeated developmental, psychiatric, psychologic, and educational assessments (DSM-III¹ and National Society for Autistic Children² criteria). Mental status examination by one of us (E.R.R.) confirmed the diagnosis of autism, full syndrome present (DSM-III 299.0).¹ The red blood cell esterase D level was 50% normal, and trypsin-Giemsa chromosome banding analysis revealed a deletion on the long arm of

Keywords

This publication has 3 references indexed in Scilit:

Deletions of the esterase D locus from a survey of 200 retinoblastoma patients
Human Genetics, 1986
Gene mapping studies with the syndrome of autism
Behavior Genetics, 1985
Genetics of retinoblastoma
Human Genetics, 1979