Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa

In this study, the C-MoKa technique was used to identify a rare case of Y chromosome translocation involving chromosome 15 in a male with Turner syndrome, which was challenging to detect using conventional chromosomal G-banding and CNV-seq. C-MoKa is a rapid and accurate cytogenetic detection method that offers high-resolution detection of structural variations and improved breakpoint characterization, thereby overcoming the limitations of traditional karyotyping approaches.

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Publication Details

Journal
Molecular Cytogenetics
Published
2026-03-27
DOI
https://doi.org/10.1186/s13039-026-00756-5
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
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article

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa

Aimin Deng, Wenbo Liu, Yimin Wang, Yuxia Yang et al.
Molecular Cytogenetics
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa

Aimin Deng, Wenbo Liu, Yimin Wang, Yuxia Yang, Min Liu, Jia Deng, Jinhao Liu, Xianghe Meng, Liyuan Zhou
article en

Abstract

In this study, the C-MoKa technique was used to identify a rare case of Y chromosome translocation involving chromosome 15 in a male with Turner syndrome, which was challenging to detect using conventional chromosomal G-banding and CNV-seq. C-MoKa is a rapid and accurate cytogenetic detection method that offers high-resolution detection of structural variations and improved breakpoint characterization, thereby overcoming the limitations of traditional karyotyping approaches.

Molecular Cytogenetics
Genomics Medicine (Ireland) (IE), Changsha Hospital for Maternal and Child Health Care (CN), Hunan Provincial Maternal and Child Health Hospital (CN)
Openalex Percentile: Top 8%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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