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BMJ Case Rep. 2010; 2010: bcr06.2009.1964.
Published online Mar 23, 2010. doi:  10.1136/bcr.06.2009.1964
PMCID: PMC3027664
Reminder of important clinical lesson
Fragile XE: an important differential diagnosis
Venkataraman Krishnan,1 Penny Clouston,2 Mark Crocker,3 James MacPherson,4 Frances Heydon,5 and Helen Stewart5
1Dr Malathi Manipal Hospital, Paediatrics, Jayanagar 9th Block, Bangalore, 560078, India
2Oxford Medical Genetics Laboratories, The Churchill, Oxford OX3 7LJ, UK
3Cytogenetics Laboratory, The Churchill, Oxford OX3 7LJ, UK
4Salisbury District Hospital, Wessex Regional Genetics Laboratory, Salisbury Healthcare NHS Trust, Salisbury, Wiltshire SP2 8BJ, UK
5The Churchill, Department of Clinical Genetics, Old Road, Headington, Oxford OX3 7LJ, UK
Correspondence to Venkataraman Krishnan, krishnancal/at/hotmail.com
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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