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Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report
Abstract Background Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition...
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Main Authors: | , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BMC
2018-12-01
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Colecção: | Molecular Cytogenetics |
Assuntos: | |
Acesso em linha: | http://link.springer.com/article/10.1186/s13039-018-0411-3 |
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