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Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects

BACKGROUND: Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for genetic counseling, particularly for prenatal genetic diagnosis. CASE PRESENTATION: T...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Lin, Shaobin, Huang, Shufang, Ou, Xueling, Gu, Heng, Wang, Yonghua, Li, Ping, Zhou, Yi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8132396/
https://ncbi.nlm.nih.gov/pubmed/34006293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00544-3
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