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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):814-8. doi: 10.3760/cma.j.issn.1003-9406.2015.06.013.

[Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism].

[Article in Chinese]

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Department of Clinical Laboratory, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China.



To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism.


G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR).


No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants ( Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH.


Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.

[Indexed for MEDLINE]

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