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Molecular genetics of 22q11.2 deletion syndrome

1 Oct 2018

Abstract excerpt

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...

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PMID: 30380194
DOI: 10.1002/ajmg.a.40504

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