Velo‐cardio‐facial syndrome: Clinical report of a 70‐year‐old woman

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 s...

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Veröffentlicht in:American journal of medical genetics 2002-09, Vol.111 (4), p.409-411
Hauptverfasser: Verhoeven, W.M.A., Tuinier, S., Engelen, J.J.M., Hollanders‐Crombach, H.T.M., Curfs, L.M.G.
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Sprache:eng
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Zusammenfassung: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. © 2002 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.10623