Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects

Hypoparathyroidism and 22q11 deletion syndrome.

AIMS To investigate a population of individuals with 22q11 deletion syndrome for hypocalcaemia. METHODS A detailed clinical history enquiring into symptoms of hypocalcaemia and blood sampling to assess for hypocalcaemia and hypoparathyroidism, of patients outside the neonatal period known to have the 22q11 microdeletion from fluorescent in situ hybridisation studies was taken. RESULTS Sixty...

Kenny-Caffey syndrome without the CATCH 22 deletion.

22q11 deletion syndrome: current perspective

Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is as...

Neuropsychological and neuropsychiatric aspects of Huntington’s Disease

Huntington's disease (HD) is characterized by a triad of motor, cognitive, and psychiatric symptoms. Although the motor symptoms are most immediately evident, there is little doubt that it is the nonmotor symptoms that have greatest impact on patients' daily lives and contribute most to patients' loss of independence. The cognitive changes in HD have traditionally been referred to as a dementia...

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%-2% of schizophrenia cases. In recent years, several g...