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

Abstract 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 present...

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Bibliographic Details
Main Authors: Shaobin Lin, Shufang Huang, Xueling Ou, Heng Gu, Yonghua Wang, Ping Li, Yi Zhou
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Molecular Cytogenetics
Subjects:
Online Access:https://doi.org/10.1186/s13039-021-00544-3