Chromosome 22q11 deletions and aggressive behaviour

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.

Towards earlier diagnosis of 22q11 deletions.

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

Chromosome 22q11 microdeletions in tetralogy of Fallot.

Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be perfo...

Chromosome 22q11 in a Xhosa schizophrenia population.

Chromosome 22q11 aberrations substantially increase the risk for developing schizophrenia. Although micro-deletions in this region have been extensively investigated in different populations across the world, little is known of their prevalence in African subjects with schizophrenia. We screened 110 African Xhosa-speaking participants with schizophrenia for the presence of micro-deletions. As f...

Chromosome 1p36 deletions

Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References