Resources on Testing

American College of Medical Genetics (1994). Fragile X syndrome: Diagnostic and carrier testing (policy statement) Am. J. Med. Genet. 53: 380-381.

Brown, WT (1996). The molecular biology of the fragile X mutation. In Hagerman, RJ and Cronister, A (eds) Fragile X Syndrome: Diagnosis and Treatment. 2nd Edition. Johns Hopkins University Press, Baltimore: Maryland.

Cronister, A (1996). Genetic Counseling. In Hagerman, RJ and Cronister, A (eds). Fragile X Syndrome: Diagnosis and Treatment. 2nd Edition. Johns Hopkins University Press, Baltimore: Maryland.

Hagerman, R (1996). Guidelines of care in fragile X syndrome. In National Fragile X Foundation Educational Files-Volume Two.

Hagerman, RJ, L Staley, R O'Connor, K Lugenbeel et al. (1994). High functioning fragile X males: demonstration of an unmethylated fully expanded mutation associated with FMR1 protein Am. J. Med. Genet. 51: 298-308.

McConkie-Rosell, A et al, (1993). Evidence that methylation of the FMR1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am. J. Med. Genet. 53: 800-809.

Nolin, S and WT Brown (1996). Mosaicism in the fragile X syndrome. In National Fragile X Foundation Educational Files-Volume Two.

Staley-Gane, L (1996). Genetic Counseling: Issues and Information. In National Fragile X Foundation Educational Files-Volume Two.

Taylor, AK, JF Safanda, KA Lugenbeel, DL Nelson and RJ Hagerman (1994). Molecular and phenotypic studies of fragile X males with variant methylation of the FMR1 gene reveal that the degree of methylation influences clinical severity. Am. J. Hum. Genet. 55: A84.

Warren, ST and DL Nelson (1994). Advances in molecular analysis of fragile X syndrome. JAMA 271: 536-542

Annette K. Taylor, M.S., Ph.D.
Kimball Genetics, Inc.
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