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Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Mol Genet Genomic Med. 2020-06-01; 
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang
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ORF cDNA Clones/MolecularCloud … 15. FGFR2 gene (Fibroblast Growth Factor Receptor 2) [Internet]. Genscript.com. 2018. Available from: https://www.genscript.com/FGFR2-gene.html 16. Hartsfield Jr JK, Morford LA, Otero LM. Genetic factors affecting facial growth … Get A Quote

摘要

background: Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests can contribute to the accurate diagnosis for those prenatal cases. methods: Targeted exome sequencing was performed in a fetus of a Chinese family, who presenting an abnormal facial appearance by prenatal 2D and 3D ultrasound screening, including micrognathia, nasal bridge pit, and abnormal auricle. The result was validated with multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (... More

关键词

TCOF1, Treacher Collins syndrome, craniofacial malformation, prenatal diagnosis, targeted exome sequencing