Journal
CLINICAL CASE REPORTS
Volume 8, Issue 3, Pages 508-511Publisher
WILEY
DOI: 10.1002/ccr3.2509
Keywords
microarrays; Nager syndrome; prenatal diagnosis
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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.
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