[1例鳃-耳-肾综合征的产前诊断]
[Prenatal diagnosis of a case with Branchi-oto-renal syndrome].
作者信息
Mi Xianxian, Yang Sheng, Shen Xueping
机构信息
Prenatal Diagnosis Center, Huzhou Maternal and Child Health Care Hospital, Huzhou, Zhejiang 313000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1210-1212. doi: 10.3760/cma.j.issn.1003-9406.2019.12.015.
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.
目的
采用染色体微阵列分析（CMA）对一名患有鳃-耳-肾综合征的女性进行产前诊断。
方法
采用外周血染色体核型分析和CMA对具有异常表型的孕妇进行分析。在家庭成员及其胎儿的其他成员中验证病理性拷贝数变异（CNV）。
结果
该孕妇及其女儿均患有鳃-耳-肾综合征，且存在一个包含EYA1基因的8q13.3微缺失。在胎儿中也发现了相同的微缺失。该家族的其他成员未发现表型或基因型异常。
结论
EYA1基因突变可能是该家族鳃-耳-肾综合征的病因，符合常染色体显性遗传。
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