Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray. Issue 3 (6th February 2020)

• Record Type: Journal Article
• Authors: Drozniewska, Malgorzata; Kilby, Mark D.; Vogt, Julie; Togneri, Fiona; Quinlan‐Jones, Elizabeth; Reali, Lisa; Allen, Stephanie; McMullan, Dominic
• Is Part Of: Clinical case reports. Volume 8:Issue 3(2020)
• Page Start: 508
• Page End: 511
• Publication Date: 2020-02-06
• Subjects: microarrays -- Nager syndrome -- prenatal diagnosis -- SF3B4 gene; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2509
• Languages: English
• ISSNs: 2050-0904

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. 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.