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

METHODSG-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).

RESULTSNo 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.

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

Amenorrhea ; diagnosis ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Comparative Genomic Hybridization ; methods ; DNA Copy Number Variations ; genetics ; Female ; Humans ; Hyperandrogenism ; diagnosis ; genetics ; Karyotyping ; Reverse Transcriptase Polymerase Chain Reaction ; Siblings ; Young Adult