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To the Editor: In her Special Communication, Dr Migeon¹ reviewed the role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. We believe that there is an important error in Table 2, regarding fragile X syndrome.

Migeon correctly notes that males with fragile X syndrome (full mutation CGG repeat expansion) generally experience moderate to severe mental retardation; however, the phenotype in females with the full mutation was incorrectly listed as "usually normal or mild retardation." The majority of females with the full mutation are affected cognitively, with 70% demonstrating an IQ in the borderline to mentally retarded range.² The remaining 30% of females, who have an IQ in the normal range, typically have executive function deficits and often present as learning disabled.² It is important to recognize the extent of clinical involvement in females to ensure their access to appropriate interventions: special education support and therapy for . . . [Full Text of this Article]

Randi J. Hagerman, MD
randi.hagerman@ucdmc.ucdavis.edu
MIND Institute
University of California Davis Health System
Sacramento

Paul J. Hagerman, MD, PhD
Department of Biochemistry and Molecular Medicine
University of California Davis School of Medicine
Davis

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