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- W2899016780 endingPage "2081" @default.
- W2899016780 startingPage "2070" @default.
- W2899016780 abstract "The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts to understand the mechanisms responsible for the 22q11.2 deletion that occurs in meiosis. This mechanism involves the four sets of low copy repeats (LCR22) that are dispersed in the 22q11.2 region and the deletion is mediated by nonallelic homologous recombination events. This review also highlights selected genes mapping to the 22q11.2 region that may contribute to the typical clinical findings associated with the disorder and explain that mutations in genes on the remaining allele can uncover rare recessive conditions. Another important aspect of 22q11.2DS is the existence of phenotypic heterogeneity. While some patients are mildly affected, others have severe medical, cognitive, and/or psychiatric challenges. Variability may be due in part to the presence of genetic modifiers. This review discusses current genome‐wide efforts to identify such modifiers that could shed light on molecular pathways required for normal human development, cognition or behavior." @default.
- W2899016780 created "2018-11-09" @default.
- W2899016780 creator A5023255205 @default.
- W2899016780 creator A5029381108 @default.
- W2899016780 creator A5042183876 @default.
- W2899016780 creator A5044268931 @default.
- W2899016780 creator A5084709322 @default.
- W2899016780 date "2018-10-01" @default.
- W2899016780 modified "2023-10-15" @default.
- W2899016780 title "Molecular genetics of 22q11.2 deletion syndrome" @default.
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