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BMJ Case Rep. 2010; 2010: bcr06.2009.1964.
Published online 2010 March 23. doi:  10.1136/bcr.06.2009.1964
PMCID: PMC3027664
Reminder of important clinical lesson

Fragile XE: an important differential diagnosis

Abstract

Fragile X is a common cause of mental retardation in boys that can also affect girls. We present the case of a 21-year-old woman with Fragile X E (FRAXE) with learning difficulty, behavioural problems and epilepsy. Her diagnosis was made after investigations spanning several years, highlighting the importance of considering FRAXE and the benefits of reviewing genetic test results in the light of advancing technology.


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