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1. Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Author

Malgorzata Drozniewska, Mark D. Kilby, Julie Vogt, Fiona Togneri, Elizabeth Quinlan‐Jones, Lisa Reali, Stephanie Allen, and Dominic McMullan

Subjects
microarrays, Nager syndrome, prenatal diagnosis, SF3B4 gene, Medicine, Medicine (General), R5-920
Abstract

Abstract Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenotype correlation in pregnancies with structural abnormalities seen on ultrasound.

Published
2020
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