18q‐mosaicism associated with Rett syndrome phenotype

Abstract

Rett syndrome consists of a characteristic progressive encephalopathy in females. The cause of this syndrome is unknown. We present a patient with 18q-mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet clinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome.