ABSTRACT
<p><b>OBJECTIVE</b>To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism.</p><p><b>METHODS</b>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).</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Subject(s)
Female , Humans , Young Adult , Amenorrhea , Diagnosis , Genetics , Chromosomes, Human, Pair 4 , Genetics , Chromosomes, Human, Pair 9 , Genetics , Comparative Genomic Hybridization , Methods , DNA Copy Number Variations , Genetics , Hyperandrogenism , Diagnosis , Genetics , Karyotyping , Reverse Transcriptase Polymerase Chain Reaction , SiblingsABSTRACT
Objective To evaluate the capability for detecting of tumor cells in ascites and pleural effusion by Sysmex XN‐2000 hematology analyzer .Methods Determination of 84 samples of ascites and pleural effusion specimens with Sysmex XN‐2000 hema‐tology analyzer humoral model to analyze the study parameters highly fluorescent cells absolute value (HF‐BF # ) and percentage (HF‐BF% ) of ascites and pleural effusions screening of tumor cells ,and related data for statistical analysis .Results In 84 cases of pleural effusion and ascites samples ,cytology found 14 cases of malignant cells ,cancer cells are not found in 70 cases .14 cases of malignant cases ,HF‐BF # average of 169 /μL(0-2 001) ,HF‐BF% with an average of 29 .7% (0% -261% );70 cases of benign cases ,HF‐BF # an average of 39 /μL(0-524) ,HF‐BF% with an average of 4 .2% (0% -27 .8% ) ,both groups were statistical differences in the mean significance(P<0 .05) .ROC curve analysis with high absolute value and percentage of fluorescent cells to tumor cells detection function ,HF‐BF # area under the curve(AUC) was 0 .493 ,the area(AUC)% HF‐BF under the curve was 0 .222 .Conclusion Sysmex XN‐2000 Pattern of humoral parameters of HF‐BF # and HF‐BF% ,although the tumor cells may pro‐vide some screening information ,but ineffective ,so we believe that in our daily work can′t be over‐reliance on the instrument HF‐BF# ,HF‐BF% and other parameters should be performed on every sample smear staining ,thus improving the detection rate of ma‐lignant cells .