Open AccessSecond‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
Author(s) -
Drozniewska Malgorzata,
Kilby Mark D.,
Vogt Julie,
Togneri Fiona,
QuinlanJones Elizabeth,
Reali Lisa,
Allen Stephanie,
McMullan Dominic
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2509
Subject(s) - microarray , prenatal diagnosis , medicine , phenotype , microarray analysis techniques , gene , comparative genomic hybridization , bioinformatics , genetics , fetus , biology , pregnancy , chromosome , gene expression
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.