Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

Objective: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. Case report: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) follow...

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Bibliographic Details
Main Authors: Chunyan Jin, Hua Qian, Tianhui Xu, Jiao Chen, Xuefang Li, Zhiping Gu
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Whole exome sequencing
TBR1 mutation
Prenatal diagnosis
Intellectual disability
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455921002631

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http://www.sciencedirect.com/science/article/pii/S1028455921002631

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