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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]

Author information

1
Department of Clinical Laboratory, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China. duanyong7@139.com.

Abstract

OBJECTIVE:

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

METHODS:

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).

RESULTS:

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 (http://projects.tcag.ca/variation/). 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.

CONCLUSION:

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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