Back to Search
Start Over
[Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Jun 10; Vol. 36 (6), pp. 632-635. - Publication Year :
- 2019
-
Abstract
- Objective: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.<br />Methods: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS).<br />Results: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father.<br />Conclusion: Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 36
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31055824
- Full Text :
- https://doi.org/10.3760/cma.j.issn.1003-9406.2019.06.026