Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray.
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ABSTRACT:
SUBMITTER: Drozniewska M
PROVIDER: S-EPMC7069884 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Publications
Second-trimester prenatal diagnosis of Nager syndrome with a deletion including <i>SF3B4</i> detected by chromosomal microarray.
Drozniewska Malgorzata M Kilby Mark D MD Vogt Julie J Togneri Fiona F Quinlan-Jones Elizabeth E Reali Lisa L Allen Stephanie S McMullan Dominic D
Clinical case reports 20200206 3
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. ...[more]
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