title: [Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism].
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Laboratory, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China. duanyong7@139.com.
authors.forename: Yanliang
authors.initials: Y
authors.lastname: Zhang
authors.forename: Qiuyue
authors.initials: Q
authors.lastname: Xu
authors.forename: Xuemei
authors.initials: X
authors.lastname: Cai
authors.forename: Yixun
authors.initials: Y
authors.lastname: Li
authors.forename: Guibo
authors.initials: G
authors.lastname: Song
authors.forename: Juan
authors.initials: J
authors.lastname: Wang
authors.forename: Rongchen
authors.initials: R
authors.lastname: Zhang
authors.forename: Yong
authors.initials: Y
authors.lastname: Dai
authors.forename: Yong
authors.initials: Y
authors.lastname: Duan
mesh_terms: D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D035781:Siblings; D055815:Young Adult