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June 23/30, 2004

Genetic Counseling for Families of Patients With Fragile X Syndrome—Reply

Author Affiliations

Letters Section Editor: Stephen J. Lurie, MD, PhD, Senior Editor.

JAMA. 2004;291(24):2945. doi:10.1001/jama.291.24.2945-b

In Reply: We agree with Ms Barrett and colleagues that genetic counseling should be provided prior to testing for FMR1 gene status among older adults with tremor and/or ataxia. FXTAS is one of several forms of clinical involvement among carriers of premutation alleles.1 Children with the premutation can experience significant emotional and attentional problems, developmental delays, and autism; additionally, approximately 20% of female carriers have premature ovarian failure.1 We agree that genetic counseling is therefore essential for the immediate and extended family and should review in depth the inheritance pattern and related implications.2

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