Group G deletion syndromes.

Group G deletion syndromes.

Heterotaxia syndromes and 22q11 deletion.

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Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes

Investigating the relationship between genes and the neural substrates of complex human behavior promises to provide essential insight into the pathophysiology of mental disorders. One approach to this inquiry is through neuroimaging of individuals with microdeletion syndromes that manifest in specific neuropsychiatric phenotypes. Both Velocardiofacial syndrome (VCFS) and Williams syndrome (WS)...

Immune Defects in Chromosome 22q11.2 Deletion Syndromes

Chromosome 22q11.2 deletion syndrome (del22q) is one of the most common genetic disorders in humans and results in the triad of cardiac defects, parathyroid hypoplasia, and thymic hypoplasia with variable immune deficiency. Some patients are at increased risk for infection and up to 10% will develop autoimmune disease. The purpose of this study was to further define reduced thymic output and ri...

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once id...