Genetic analysis of an infertility male with 46,X,psu idic(Y)(q12)
Objective To perform genetic analysis on an adult male with a karyotype of 46,X,psu idic(Y)(q12),and explore the correlation between clinical phenotype and karyotype.Methods Peripheral blood lymphocytes were cultured to prepare chromosomes.G-banding was used to analyze the patient's karyotype,and C-banding to verify the heterochromatic region of the Y chromosome.Fluorescence in situ hybridization(FISH)was applied to confirm the abnormal morphology of the Y chromosome,and multiplex fluorescence PCR to detect AZF gene microdeletions.High-throughput sequencing technology was used to examine chromosomal aneuploidies and genomic copy number variations over 100 kb.Results G-banding and C-banding analysis showed that the patient had a karyotype of 46,X,psu idic(Y)(q12),with one functional centromere.FISH analysis confirmed that the derivative chromosome was a Y chromosome with two centromeres.Multiplex fluorescence PCR showed that there were no deletions in SRY gene,AZFa(sY84,sY86),AZFb(sY127,sY134),or AZFc(sY254,sY255).High-throughput sequencing results revealed a duplication of Y chromosome p11.32q12 region(chrY:1-59 373566),suggesting the presence of two Y chromosomes.Conclusion Karyotype analysis combined with FISH and sequencing technology can accurately determine that the breakpoint of idic(Y)is located at Yq12.The 46,X,psu idic(Y)(q12)karyotype may be a cellular genetic indication for the diagnosis of severe oligozoospermia or azoospermia in men.
isodicentric Y chromosomeinfertility,maleazoospermia
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