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Tijdschrift voor Psychiatrie 49 (2007) 6, 405 - 409

Case report

Mild mental retardation and complex psychiatric symptoms are accompanied by submicroscopic sub-telomeric deletion of a long arm of chromosome 3. A case study

H. Kajosch, N. Vanderbruggen, K. Keymolen, H. D'haenen † , E. De Baerdemaeker

A 34-year-old woman presented with complex symptoms of unknown origin. Because she suffered from a co-existing learning disability (mental retardation) and dysmorphic disorders a genetic examination was carried out. This revealed a submicroscopic terminal deletion of the long arm of chromosome 3. The contribution that clinical genetics make to the diagnosis of mental retardation is discussed on the basis of a review of the recent literature.

keywords chromosome 3q, chromosome deletion, mental retardation, psychiatric, symptoms