Prenatal diagnosis of a fetus with trisomies of 11q23.3q25 and 22q11.1q11.21.
10.3760/cma.j.issn.1003-9406.2019.06.026
- Author:
Fuguang LI
1
;
Jiang TANG
;
Xiaojie XIE
;
Suhuan TANG
;
Aijian WU
;
Qiaomin TANG
;
Weihe TAN
;
Xiaoyan GUO
Author Information
1. The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, Guangdong 511518, China. Email: fuguang082@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Disorders;
Chromosomes, Human;
Female;
Fetus;
Humans;
Karyotyping;
Pregnancy;
Prenatal Diagnosis;
Translocation, Genetic;
Trisomy
- From:
Chinese Journal of Medical Genetics
2019;36(6):632-635
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.
METHODS:The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS).
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.
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.
