Article
Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
Human genetics - 1 Aug 1997
Wolff D J, Gustashaw K M, Zurcher V, Ko L, White W, Weiss L, Van Dyke D L, Schwartz S, Willard H F
Abstract excerpt
High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; however, his profound mental and growth retardation, small testes, and lover limb skeletal defects and...
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