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Showing 1 to 3 of 3 for “"22qDS"”.
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An analysis of the phenotypic features of chromosomes 22q11.1 deletion syndrome at Red Cross War Memorial Children's Hospital
Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the second most commonly occurring syndrome, Trisomy 21 being the most common. It is the most common microdeletion syndrome. The clinical range of features with which affected individuals present is very …
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Modeling Complex Neurological Disorders With Human Induced Pluripotent Stem Cells
… Schizophrenia and HAND. First, we studied 22qDS, a hemizygous microdeletion that occurs at chromosome 22q11.2 and leads to complex neuropsychiatric phenotypes including SZ in 25% of 22qDS individuals. Since 6 of the 40 genes deleted in 22qDS encode for proteins that directly localize to …
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Executive Dysfunction is Predictive of Clinical Symptomatology in 22q11.2 Deletion Syndrome
… of individuals with 22q11.2 deletion syndrome (22qDS) develop a psychotic disorder, often schizophrenia, and it is not understood why. Given the known genetic etiology of this disorder and the greatly elevated risk for development of schizophrenia, this group offers the possibility of defining a …