CEREBRAL MALFORMATIONS IN THE XYY SYNDROME

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Abstract
The XYY syndrome predisposes to mental retardation, personality defects and neurological symptoms. In autosomal chromosome syndromes such features are often associated with cerebral malformations. There are, however, only a few reports on the pathology of the central nervous system in patients with sex chromosome aberrations, and, so far, the neuropathology in the XYY syndrome has been entirely unknown. The present paper concerns a prepubertal, mentally retarded boy with typical clinical and cytogenetic features of the XYY syndrome. The brain was megalencephalic with mild cortical dysplasia, diffuse neuronal heterotopias of white matter and signs of retarded cellular maturation. The observations allow no generalized conclusions concerning the role of an XYY sex chromosome constitution in the production of cerebral abnormalities but point to the importance of further studies in this field.