Velo-cardio-facial syndrome: Clinical report of a 70-year-old woman
American Journal of Medical Genetics , Volume 111 - Issue 4 p. 409- 411
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|
|American Journal of Medical Genetics|
|Organisation||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