A de novo X; 3 translocation in Rett syndrome

Abstract

Rett syndrome is a neurodegenerative disorder that occurs exclusively in females. The syndrome is sporadic in most cases with the exception of a few familial cases with an inheritance pattern through maternal lines. These observations raised the possibility that Rett syndrome may be due to an X‐linked dominant mutation which is lethal in the male. To evaluate this hypothesis, we have systematically performed high‐resolution chromosome analysis on 28 patients with Rett syndrome searching for deletions and/or translocations. In one patient, a de novo balanced translocation was observed with the chromosome constitution of 46, X, t (X;3) (p22.11;q13.31). This finding supports the hypothesis of an X‐linked dominant mutation and suggests that the Rett gene might map to distal Xp21 or proximal Xp22.