Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review

Abstract Background Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic informa...

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Bibliographic Details
Main Authors: Shaohua Sun, Fang Zhan, Jiusheng Jiang, Xuerui Zhang, Lei Yan, Weiyi Cai, Hailiang Liu, Donghua Cao
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Medical Genomics
Subjects:
Trisomy 8 mosaicism
Karyotyping and prenatal diagnosis
Next generation sequencing (NGS)
Online Access:https://doi.org/10.1186/s12920-019-0639-8

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