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.

Deletion 22q11.2, Psychopathological phenotype, VCFS, VCFS psychiatric syndrome
dx.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