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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Detalles Bibliográficos
Autores principales: Lin, Shaobin, Huang, Shufang, Ou, Xueling, Gu, Heng, Wang, Yonghua, Li, Ping, Zhou, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132396/
https://www.ncbi.nlm.nih.gov/pubmed/34006293
http://dx.doi.org/10.1186/s13039-021-00544-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132396/
https://www.ncbi.nlm.nih.gov/pubmed/34006293
http://dx.doi.org/10.1186/s13039-021-00544-3

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