Prenatal diagnosis of a case with Branchi-oto-renal syndrome
10.3760/cma.j.issn.1003-9406.2019.12.015
- VernacularTitle: 一例鳃-耳-肾综合征孕妇的产前诊断
- Author:
Xianxian MI
1
;
Sheng YANG
;
Xueping SHEN
Author Information
1. Prenatal Diagnosis Center, Huzhou Maternal and Child Health Care Hospital, Huzhou, Zhejiang 313000, China
- Publication Type:Clinical Trail
- Keywords:
Chromosomal microarray analysis;
8q microdeletion;
Branchio-oto-renal syndrome;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(12):1210-1212
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out prenatal diagnosis for a women with Branchio-oto-renal syndrome by using chromosomal microarray analysis (CMA).
Methods:Peripheral blood chromosomal karyotyping and CMA were used to analyze the gravida with an abnormal phenotype. Pathological copy number variants (CNVs) were validated in other members of the family members and her fetus.
Results:The gravida and her daughter both had Branchio-oto-renal syndrome and a 8q13.3 microdeletion encompassing the EYA1 gene. The same microdeletion was also found in the fetus. No phenotypic or genotypic anomaly was found with other members of the family.
Conclusion:Mutation of the EYA1 gene probably underlies the Branchio-oto-renal syndrome in this family, which is consistent with an autosomal dominant inheritance.
