[一名9q34重复综合征婴儿的基因分析]
[Genetic analysis of an infant with duplication 9q34 syndrome].
作者信息
Tong Yu, Yan Shengyu, Shi Jianyou, Chen Lu, Wan Cheng, Xu Kai
机构信息
Wenzhou People's Hospital, Wenzhou, Zhejiang 325000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):437-439. doi: 10.3760/cma.j.issn.1003-9406.2018.03.030.
OBJECTIVE
To determine the genetic cause of an infant with multiple congenital anomalies.
METHODS
Routine karyotype analysis and chromosome microarray analysis (CMA) were carried out for the infant and her parents.
RESULTS
CMA has detected a 9.3 Mb duplication at 9q34.11-q34.3. G-banding analysis suggested that the infant has a 46,XX,der(1)add(1)(p34.1) karyotype, while her father was 46, XY, t(1,9)(p36.3;q34.1). Fluorescence in situ hybridization (FISH) analysis confirmed that the 9q34 duplication has derived from the balanced translocation carried by the father.
CONCLUSION
A 9.3 Mb duplication was detected within the 9q34 region in an infant featuring multiple congenital anomalies. CMA and FISH have enabled detection of this duplication and facilitated genetic counseling and prevention of birth of further affected offspring.
目的
确定一名患有多种先天性异常的婴儿的遗传病因。
方法
对该婴儿及其父母进行常规核型分析和染色体微阵列分析（CMA）。
结果
CMA检测到9q34.11-q34.3区域有9.3 Mb的重复。G带分析表明该婴儿的核型为46,XX,der(1)add(1)(p34.1)，而其父亲的核型为46, XY, t(1,9)(p36.3;q34.1)。荧光原位杂交（FISH）分析证实9q34重复源自父亲携带的平衡易位。
结论
在一名患有多种先天性异常的婴儿中，检测到9q34区域内有9.3 Mb的重复。CMA和FISH能够检测到这种重复，并有助于进行遗传咨询以及预防更多受影响后代的出生。
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