Wetenschappelijk tijdschrift voor psychiaters, artsen in opleiding tot psychiater en andere geïnteresseerden
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
summary
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.