My SciELO
Services on Demand
Journal
Article
Indicators
Cited by SciELO
Access statistics
Related links
Cited by Google
Similars in SciELO
Similars in Google
Share
The European Journal of Psychiatry
Print version ISSN 0213-6163
Abstract
VANDERSTEEN, Anthony M. et al. Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome. Eur. J. Psychiat. [online]. 2009, vol.23, n.1, pp.31-36. ISSN 0213-6163.
Background and Objectives: A recent report highlighted the importance of considering a chromosomal abnormality in the differential diagnosis of adult clinical psychiatry. This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. Methods: A 45 years old woman was referred to the clinical genetics department by her psychiatrist for investigation of her gross obesity, hyperphagia, learning difficulties and affective disorder. Results: Cytogenetic analysis revealed a 47,XXX karyotype. Molecular testing identified an expansion of approximately 580 repeats in the FRAXA gene carried on two of her three copies of the X chromosome. Clinical evaluation revealed features consistent with the Prader-Willi like phenotype of Fragile X syndrome. Conclusions: It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counselling and initiate cascade screening where applicable.
Keywords : Fragile X; 47,XXX; obesity; hyperphagia; affective disorder.
![](/img/en/iconPDFDocument.gif)