Results Analysis of Detection of Microarray Genomic Hybridization for 3 Patients with Rare Sex Reversal Syndromes
OU Ming-lin
ZENG Jun
GONG Wei-wei
XUE Wen
JING Huan-yun
ZHANG Ruo-han
CHEN Jie-jing
GAN Qing
DAI Yong
SUI Wei-guo
Abstract：Objective To analyze values and clinical significances of detection of microarray genomic hybridization in diagnosis of sex reversal syndromes. Methods Clinical data and peripheral blood samples of patients with genetic counseling from 2010 to 2015 were collected. G-banding technique was used to analyze the chromosomal karyotypes. Detection of mi-croarray genomic hybridization was performed for patients confirmed sex reversal syndromes, and characteristics changes in pa-tients were analyzed. Results There were 9946 patients with genetic counseling at the same period, and 3 patients (0. 03%) were confirmed as having sex reversal syndromes. G band karyotype analysis showed that there were 2 male patients with 46, XX female sex reversal syndrome and 1patient with 46, XY sex reversal syndrome. Detection of microarray genomic hybridiza-tion showed that 3 patients had micro sub CNVs abnormal changes, which included that sex chromosome Yp11. 31 of 1 patient with 46, XX male sex reversal syndrome had amplification (SRY-positive), while other 2 patients did not find SRY gene ( SRY-negative) . Conclusion The sex reversal syndrome in genetic counseling population in Guilin is relatively rare. Mi-croarray genomic hybridization provides an effective method for CNVs detection. It is a new way for the etiological diagnosis and classification of sex reversal syndromes.
Keywords：Sexual reversalgonadCytogenetic analysisKaryotype analysisGene copy number variations
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 76-80 )