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Case Reports
. 2018 Jun 10;35(3):437-439.
doi: 10.3760/cma.j.issn.1003-9406.2018.03.030.

[Genetic analysis of an infant with duplication 9q34 syndrome]

[Article in Chinese]
Yu Tong  1 , Shengyu Yan, Jianyou Shi, Lu Chen, Cheng Wan, Kai Xu
Affiliations
Case Reports

[Genetic analysis of an infant with duplication 9q34 syndrome]

[Article in Chinese]
Yu Tong et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

Abstract

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.

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