Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X

Abstract

Rett syndrome (RS) was diagnosed in a girl with a t(X;22)(p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a “forme fruste” of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.