Article

Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological changes

2023-04-20

Abstract excerpt

<title>Abstract</title> <p>Complex congenital chromosome abnormalities are rare but often cause severe symptoms. The structures and biological impacts of such chromosome abnormalities have seldomly been analyzed at the molecular level. Previously, we reported a Japanese female patient with severe developmental defects. The patient had an extra dicentric chromosome 21 (chr21) consisting of two partial chr21 copies...

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Literature Corpus work: bcb7e76e-75fd-58de-b9e9-8f50641d5fb7
DOI: 10.21203/rs.3.rs-2808146/v1

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