Velocardiofacial syndrome case report: Is this a homogeneous genetic subtype of Schizophrenia?

  • JL Roos University of Pretoria
  • EM Honey University of Pretoria
  • HW Pretorius University of Pretoria
  • C Sobin The Rockefeller University
  • M Karayiorgiou The Rockefeller University

Abstract

In this case report of a 29 year old Afrikaner male, a diagnosis of velocardiofacial syndrome was made on clinical grounds. Later a FISH analysis test for 22q 11 microdeletion confirmed this clinical diagnosis. Specifically two independent studies have reported that 25-31% of patients with the 22q 11 microdeletion met diagnostic criteria for the schizophrenia or schizo-affective disorders, while the microdeletion occurs in the population at a rate of 0.025% it has been found in 2% of adult schizophrenia patients in the 6% of cases with childhood onset schizophrenia.

Author Biographies

JL Roos, University of Pretoria
Department of Psychiatry
EM Honey, University of Pretoria
Department of Human Genetics
HW Pretorius, University of Pretoria
Department of Psychiatry
C Sobin, The Rockefeller University
Human Neurogenetics Laboratory
M Karayiorgiou, The Rockefeller University
Human Neurogenetics Laboratory
Section
Case studies