22q11 deletion syndrome: current perspective
22q11 deletion syndrome: current perspective
About this item
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Publisher
New Zealand: Dove Medical Press Limited
Journal title
Language
English
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Publisher
New Zealand: Dove Medical Press Limited
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Scope and Contents
Contents
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...
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Full title
22q11 deletion syndrome: current perspective
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TN_cdi_doaj_primary_oai_doaj_org_article_8f4f10895e064ab58976c336efe4e6e4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8f4f10895e064ab58976c336efe4e6e4
Other Identifiers
ISSN
1178-704X
E-ISSN
1178-704X
DOI
10.2147/TACG.S82105
