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Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

作者信息

Chitty Lyn S, Friedman Jan M, Langlois Sylvie

机构信息

Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, England.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

出版信息

Prenat Diagn. 2016 Jan;36(1):15-9. doi: 10.1002/pd.4718. Epub 2015 Nov 22.

DOI:10.1002/pd.4718
PMID:26525746
Abstract
摘要

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Prenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.通过一种新的靶向外显子组测序策略，对超声检查结果异常的胎儿进行检测，实现了与基因突变相关的X连锁肌病的产前诊断。
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PeerJ. 2016 Apr 26;4:e1955. doi: 10.7717/peerj.1955. eCollection 2016.