A clinical report is presented of a 70-year-old female in whom, after more than 40 years residential psychiatric care, the diagnosis of velo-cardio-facial syndrome (VCFS) was ultimately established; the patient has a 46, XX.ish del (22)(q11.2q11.2)(D22S75-) karyotype. It is advocated that a rather specific psychopathological profile is present in patients with VCFS, for which the term psychopathological phenotype is introduced, that should include data from genetics, neuropathology, development, psychology, and psychiatry.

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doi.org/10.1002/ajmg.10623, hdl.handle.net/1765/62514
American Journal of Medical Genetics
Department of Psychiatry

Verhoeven, W.M.A, Tuinier, S, Engelen, J, Hollanders-Crombach, H.T.M, & Curfs, L.M.G. (2002). Velo-cardio-facial syndrome: Clinical report of a 70-year-old woman. American Journal of Medical Genetics, 111(4), 409–411. doi:10.1002/ajmg.10623