Case studies

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

J.L. Roos, E.M. Honey, H.W. Pretorius, C. Sobin, M. Karayiorgiou
South African Family Practice | Vol 45, No 2 | a1984 | DOI: https://doi.org/10.4102/safp.v45i2.1984 | © 2003 | This work is licensed under CC Attribution 4.0
Submitted: 21 September 2011 | Published: 31 May 2003

About the author(s)

J.L. Roos, Department of Psychiatry, University of Pretoria, South Africa
E.M. Honey, Department of Human Genetics, University of Pretoria, South Africa
H.W. Pretorius, Department of Psychiatry, University of Pretoria, South Africa
C. Sobin, Human Neurogenetics Laboratory, The Rockefeller University, United States
M. Karayiorgiou, Human Neurogenetics Laboratory, The Rockefeller University, United States

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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.

Keywords

velocardiofacial syndrome; schizophrenia

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