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Case Report

Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

  • Authors:
    • Yuting Jiang
    • Ruixue Wang
    • Linlin Li
    • Lintao Xue
    • Shu Deng
    • Ruizhi Liu
  • View Affiliations / Copyright

    Affiliations: Center for Reproductive Medicine, Center for Prenatal Diagnosis First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China, Reproductive Medical and Genetic Center, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 520021, P.R. China
  • Pages: 3433-3438
    |
    Published online on: July 14, 2017
       https://doi.org/10.3892/mmr.2017.6981
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Abstract

The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process. Possible mechanisms of the formation of the mosaic karyotype and karyotype‑phenotype correlations are discussed. The current study highlights that routine karyotype analysis and fluorescent in situ hybridization‑based technology are more useful in detecting mosaic chromosomal abnormality, predicting the clinical features of patients during genetic counseling and improving artificial reproductive technologies.
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Copy and paste a formatted citation
Spandidos Publications style
Jiang Y, Wang R, Li L, Xue L, Deng S and Liu R: Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review. Mol Med Rep 16: 3433-3438, 2017.
APA
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., & Liu, R. (2017). Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review. Molecular Medicine Reports, 16, 3433-3438. https://doi.org/10.3892/mmr.2017.6981
MLA
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., Liu, R."Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review". Molecular Medicine Reports 16.3 (2017): 3433-3438.
Chicago
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., Liu, R."Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review". Molecular Medicine Reports 16, no. 3 (2017): 3433-3438. https://doi.org/10.3892/mmr.2017.6981
Copy and paste a formatted citation
x
Spandidos Publications style
Jiang Y, Wang R, Li L, Xue L, Deng S and Liu R: Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review. Mol Med Rep 16: 3433-3438, 2017.
APA
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., & Liu, R. (2017). Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review. Molecular Medicine Reports, 16, 3433-3438. https://doi.org/10.3892/mmr.2017.6981
MLA
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., Liu, R."Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review". Molecular Medicine Reports 16.3 (2017): 3433-3438.
Chicago
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S., Liu, R."Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review". Molecular Medicine Reports 16, no. 3 (2017): 3433-3438. https://doi.org/10.3892/mmr.2017.6981
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