Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

Vandersteen, Anthony M; Moore, David; Donaghue, Celia; MacFarlane, Neil; Josifova, Dragana

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 counseling and initiate cascade screening where applicable (AU)

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