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Aortic stenosis of fetus caused by chimeric Y-chromosome isobaric double-adherent granules:A case report and literature review
Yulu QUAN,Pingping ZHANG,Yan LUO,Jing HUO,Xiaoping YU,Yanmei SUN,Yali LI
PDF(727 KB)
PDF(727 KB)
Aortic stenosis of fetus caused by chimeric Y-chromosome isobaric double-adherent granules:A case report and literature review
),Yali LI2()Objective To confirm the potential etiological factors of congenital aortic stenosis （AS） by genetic analysis on prenatal diagnostic results of the fetus with AS. Methods Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array （SNP-array） analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as “fetus AS”； chromosome karyotyping was also performed on the peripheral blood of the fetal parents. Results The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules. The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region. Both the parents presented a normal karyotype， suggesting it was a newfound mutation. After extensive genetic counseling， the pregnant woman and her family chose to terminate the pregnancy locally. Conclusion The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus. The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.
Fetus / Congenital heart disease / Aortic stenosis / Prenatal diagnosis / Chimeric Y-chromosome isobaric double-adherent granules
R714.53
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