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Naji, M. |
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Motta, Antonella |
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Aletan, Dirar |
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Mohamed, Tarek |
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Ertürk, Emre |
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Taccardi, Nicola |
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Kononenko, Denys |
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Petrov, R. H. | Madrid |
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Alshaaer, Mazen | Brussels |
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Bih, L. |
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Casati, R. |
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Muller, Hermance |
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Kočí, Jan | Prague |
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Šuljagić, Marija |
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Kalteremidou, Kalliopi-Artemi | Brussels |
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Azam, Siraj |
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Ospanova, Alyiya |
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Blanpain, Bart |
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Ali, M. A. |
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Popa, V. |
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Rančić, M. |
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Ollier, Nadège |
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Azevedo, Nuno Monteiro |
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Landes, Michael |
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Rignanese, Gian-Marco |
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Stambolova, S. M.
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article
Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study
Abstract
<jats:sec><jats:title>Background</jats:title><jats:p>Velo-cardio-facial syndrome (VCFS) is associated with interstitial deletions of chromosome 22q11. About 30% of patients with VCFS have psychosis, and the rate of these deletions in schizophrenia has been reported to be about 1%. Even higher rates of VCFS deletions have been reported for childhood-onset schizophrenia.</jats:p></jats:sec><jats:sec><jats:title>Aims</jats:title><jats:p>To test the hypothesis that there is an increased rate of VCFS among patients with early-onset psychosis (age at onset < 18 years). We screened 192 early-onset patients and 329 patients with adult-onset schizophrenia.</jats:p></jats:sec><jats:sec><jats:title>Method</jats:title><jats:p>We genotyped the patients and 444 healthy controls for hemizygosity of five microsatellite markers and one single nucleotide polymorphism that map to the 22q11-deleted region.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>One patient had a VCFS deletion, confirmed with semi-quantitative polymerase chain reaction. None of the controls showed a pattern of genotypes consistent with hemizygosity.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>VCFS may be less frequent among patients with psychosis than previously suggested; this rate is not increased among early-onset patients.</jats:p></jats:sec>