Molecular Cytogenetics最新文献

{"title":"A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX.","authors":"Mengjie Shen, Huaying Ren, Ting Chen, Ke Chen","doi":"10.1186/s13039-026-00765-4","DOIUrl":"https://doi.org/10.1186/s13039-026-00765-4","url":null,"abstract":"<p><strong>Background: </strong>Only ten patients with both trisomy 21 and normal karyotypes have been documented, including four singleton patients and three sets of twins. Among these twins, two were monochorionic dizygotic: one pair was terminated at 18 weeks, and the other was followed for two years.</p><p><strong>Case presentation: </strong>A 38-year-old woman conceived through in vitro fertilization. Ultrasound examinations confirmed monochorionic twins. Standard karyotyping of peripheral blood cells from the twins revealed 47,XY,+21/46,XX chimerism, with a predominance of the 46,XX line. Single nucleotide polymorphism microarray analysis of oral mucosa cells identified a single cell line (46,XX) in the twin girl and a single cell line (47,XY,+21) in the twin boy. Over a decade of follow-up, the twins exhibited normal development, including hormonal values and external genitalia. While the twin boy exhibited a typical Down Syndrome phenotype.</p><p><strong>Conclusions: </strong>Monochorionic dizygotic (MCDZ) twins, though rare, can occur in assisted reproductive technology (ART) pregnancies, possibly due to blastocyst fusion or other mechanisms. These cases may be associated with confined blood chimerism (CBC) and monochorionic complications, despite genetic discordance between the twins. MCDZ twinning presents unique diagnostic and management challenges. For monochorionic dizygotic twins, early determination of zygosity and chorionicity is essential. Timely diagnosis, multidisciplinary care-including maternal-fetal medicine, medical genetics, and neonatology-and individualized counseling are critical components of management. Additionally, the mechanisms and long-term effects of intrauterine cell trafficking-especially concerning gonadal development-remain areas requiring further research.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes.","authors":"Tieli Gao, Hua Wei, Yawen Zheng, Ying Xiao, Moling Zheng, Shurong Hong","doi":"10.1186/s13039-026-00766-3","DOIUrl":"https://doi.org/10.1186/s13039-026-00766-3","url":null,"abstract":"<p><strong>Background: </strong>Isodicentric Y chromosomes [idic(Y)] are frequently detected in patients with disorders of sex development (DSDs). However, prenatal cases are rarely reported. We performed comprehensive prenatal diagnostic evaluations in three fetuses with mosaic idic(Y) and followed up on pregnancy outcomes to explore the genotype-phenotype correlation.</p><p><strong>Methods: </strong>Amniotic fluid cells from three fetuses were subjected to karyotyping and chromosomal microarray analysis (CMA), with confirmation by fluorescence in situ hybridization (FISH) and real-time quantitative PCR (qPCR). Subsequently, parental karyotypes were analyzed using peripheral blood samples to assess inheritance (de novo vs. inherited).</p><p><strong>Results: </strong>All three fetuses exhibited mosaic 45,X with idic(Y) karyotypes, which exhibited distinct breakpoints (Yp11.32, Yq11.221, and Yq11.223). Two fetuses had additional 46,XY cell lines. The SRY gene was retained in all cases. In Fetus 1, the AZF region was intact, whereas in Fetus 2 and Fetus 3, AZFb + c and AZFc were deleted. Fetus 1 was born alive following genetic counseling. Notably, a right adrenal neuroblastoma was detected during late gestation and successfully resected postnatally. The other two pregnant women elected for pregnancy termination.</p><p><strong>Conclusion: </strong>The integration of multiple technologies is essential for accurate prenatal diagnosis in cases of mosaic idic(Y). Our findings, including the rare association with neuroblastoma, contribute new insights into the phenotypic spectrum of this condition. Long-term follow-up and multidisciplinary clinical management are crucial for optimizing outcomes in live-born patients.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":"19 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13123102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome.","authors":"Romain Martineau, Florent Fuchs, Audrey Lamouroux, Benjamin Ganne, Constance Wells","doi":"10.1186/s13039-026-00763-6","DOIUrl":"https://doi.org/10.1186/s13039-026-00763-6","url":null,"abstract":"<p><p>Trisomy 14 mosaicism is a rare chromosomal disorder caused by the presence of an extra chromosome 14 in a subset of cells. Its true prevalence is unclear due to frequent early pregnancy loss. Clinical manifestations vary widely and include fetal growth restriction, craniofacial dysmorphia, cardiac and genitourinary anomalies, with no consistent correlation between mosaicism level and severity. We report a case of prenatal trisomy 14 mosaicism diagnosed via chorionic villus sampling and confirmed in fetal tissue. Ultrasound at 15 weeks showed multiple congenital anomalies affecting the craniofacial region, heart, and limbs , along with growth restriction. Given the severity, termination of pregnancy was performed at 17 weeks. Postmortem examination confirmed the anomalies, including abnormal male external genitalia. FISH analysis on muscle tissue demonstrated trisomy 14 mosaicism in approximately 35% of nuclei. This case contributes to the limited prenatal literature on trisomy 14 mosaicism and emphasizes the value of early imaging and cytogenetic analysis in diagnosis and counselling. It highlights the importance of concurrent detailed early sonographic evaluation and targeted cytogenetic testing in suspected malformative syndromes, as well as the diagnostic value of postmortem tissue-specific FISH to better characterize the mosaic distribution. Because mosaicism levels may vary markedly between tissues and do not necessarily correlate with phenotypic severity, this case also illustrates the limitations of chorionic villus sampling and amniocentesis, and supports multi-tissue sampling in fetopathological assessment to refine prognostic evaluation and genetic counselling.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report.","authors":"Danhua Yang, Han Chen, Zhenliang Fan, Junfen Fan","doi":"10.1186/s13039-026-00764-5","DOIUrl":"https://doi.org/10.1186/s13039-026-00764-5","url":null,"abstract":"<p><strong>Background: </strong>DAAM2 is an important formin, which plays an important role in the polymerization of monomeric actin into linear filaments. Previous studies have suggested that the DAAM2 variant mainly causes congenital Nephrotic Syndrome Type 24 (NPHS24), which is characterized by focal segmental glomerulosclerosis and steroid resistant nephrotic syndrome.</p><p><strong>Methods: </strong>We report a case of a young man diagnosed with IgA nephropathy by renal biopsy.</p><p><strong>Results: </strong>Specifically, in addition to IgA nephropathy, this patient also had diffuse thinning of GBM, reduced segmental expression of type IV collagen α3 in the glomerulus, and binocular keratoconus which is consistent with features of Alport syndrome. However, whole exon sequencing eliminated the common variation in the type IV collagen-encoding gene and revealed a homozygous mutation in the formin homology 2 (FH2) domain of DAAM2, the core domain responsible for actin polymerization.</p><p><strong>Conclusion: </strong>In conclusion, our case suggests that the spectrum of DAAM2-associated nephropathies might be broader than previously recognized. We propose the novel hypothesis that mutations in the FH2 domain of DAAM2 could predispose to an Alport-like phenotype, potentially through cytoskeletal dysregulation affecting glomerular basement membrane (GBM) integrity. This expands the potential clinical heterogeneity linked to DAAM2 and warrants further investigation.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.","authors":"Lifang Zhang, Feiyan Qian, Weiping Chen, Jiaming Fan, Yan Zeng, Tingting Luo, Ming Che, Bin Yu, Tao Zhang","doi":"10.1186/s13039-026-00761-8","DOIUrl":"https://doi.org/10.1186/s13039-026-00761-8","url":null,"abstract":"<p><strong>Introduction: </strong>To report the prenatal diagnosis and follow-up of a fetus with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.</p><p><strong>Case report: </strong>A fetus diagnosed with mosaic T9p at Shaoxing Maternal and Child Health Hospital in February 2022 was selected as the study subject. The amniotic fluid karyotype was 47,XY,+i(9)(p10)[3]/46,XY[97]. CNV-seq revealed a 70.56 Mb copy number gain in 9p24.3q21.11 (mosaicism at 6%). After genetic counseling, the parents opted to continue the pregnancy. A 3.9 kg male fetus was delivered at full term with normal physical findings at birth. The baby was phenotypically normal and had normal psychomotor and language development at 3 years old, at our last postnatal follow-up. When the child was 3 years old, his physical measurement parameters (height: 97 cm; weight: 14 kg) and neurodevelopment milestones all met the age standards. His peripheral blood karyotype was 47,XY,+i(9)(p10)[10]/46,XY[90], with CNV-seq analysis indicating a 39.16 Mb copy number gain in the 9p24.3p13.1 region (mosaicism at 53%). This discrepancy with the amniotic fluid CNV-seq results was attributed to differences in segmentation algorithms or software. FISH detected T9p mosaicism in oral mucosa (11.2%) and urinary sediment cells (12.7%). A synthesis of data from karyotype analysis, CNV-seq, and FISH collectively substantiates the presence of an acquired alteration within the 9p region, while the evidence does not support the extension of this fragment across the centromere of chromosome 9 into the q arm.</p><p><strong>Conclusion: </strong>The combined use of various methods may be capable of more accurately determining break-points and mosaic levels of T9p during prenatal diagnosis. This enriches the clinical spectrum of T9p mosaicism and provides a basis for prenatal diagnosis and genetic counseling of children with this type of chromosome variation.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism.","authors":"T Dittrich, R Wenzel, A Beck, S Dahlum, R Siebert, U Friebe-Hoffmann, S Bens","doi":"10.1186/s13039-026-00762-7","DOIUrl":"10.1186/s13039-026-00762-7","url":null,"abstract":"<p><strong>Background: </strong>Partial trisomy 21 is a rare chromosomal aberration that can provide unique insights into genotype-phenotype correlations in Down syndrome (DS). While non-invasive prenatal testing (NIPT) has become a widely used screening tool for common aneuploidies, its sensitivity is limited in cases of low-level mosaicism or partial duplications. We report a de novo partial trisomy 21 encompassing the entire Down syndrome critical region (DSCR) that escaped NIPT.</p><p><strong>Case presentation: </strong>A 38-year-old first gravida underwent NIPT for evaluation of fetal trisomies 13, 18 or 21 as well as monosomy X, which showed normal results. Ultrasound at 19 + 5 weeks of gestation revealed polyhydramnios and a left-sided fetal hydrothorax, prompting amniocentesis. By karyotyping, a derivative chromosome 21 carrying additional material on the p-arm was identified. PCR-based microsatellite analysis, FISH and array-based studies on amniotic cells characterized the attached material as a de novo terminal duplication of 11.8 Mb of chromosome 21q22.12q22.3, fully encompassing the DSCR and without evidence of mosaicism. Comprehensive genetic counselling was provided, and the pregnancy was electively terminated at 24 weeks of gestation. Postmortem examination of the fetus revealed phenotypic features consistent with Down syndrome. In contrast to the non-mosaic duplication observed in amniotic fluid cells, post-termination tissue analysis demonstrated placental mosaicism, comprising predominantly a normal male cell line and a chromosomal aberrant male cell line with partial duplication of 21q22.12q22.3 in 28% of interphase nuclei in short-term cultured chorionic villi. This constellation likely explains the normal NIPT result.</p><p><strong>Conclusion: </strong>This case illustrates the limitations of NIPT in detecting partial trisomies and low-grade placental mosaicism. It emphasizes the importance of further invasive prenatal investigations when results of ultrasound and NIPT are discrepant and it contributes to the understanding of genotype-phenotype correlations in partial trisomy 21. Clinicians should be aware that partial duplications of 21q22 can produce a full DS phenotype despite unremarkable NIPT results. This case highlights the challenges of technical choices in prenatal diagnostics and emphasizes the need for careful interpretation of screening tests and targeted counselling.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13085707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147662443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia.","authors":"Andreja Zagorac, Nejc Kozar, Boris Zagradišnik, Milan Reljič, Nadja Kokalj Vokač","doi":"10.1186/s13039-026-00758-3","DOIUrl":"https://doi.org/10.1186/s13039-026-00758-3","url":null,"abstract":"","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali.","authors":"Oumar Samassekou, Modibo K Goita, Madani Ly, Moussa Bathily, Christine Ongoiba, Guida Landouré, Mahamadou Traoré","doi":"10.1186/s13039-026-00760-9","DOIUrl":"https://doi.org/10.1186/s13039-026-00760-9","url":null,"abstract":"<p><strong>Background: </strong>Chronic myeloid leukemia (CML) is defined by the presence of the BCR::ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation. In addition to this primary rearrangement, secondary chromosomal abnormalities involving chromosomes 9 and 22 may arise during clonal evolution and influence disease progression and response to therapy. Pericentric inversion of chromosome 9 is usually regarded as a constitutional variant. However, when acquired in CML, particularly involving the derivative chromosome 9, it represents a rare secondary abnormality whose biological and clinical significance remains poorly defined.</p><p><strong>Case presentation: </strong>We report the case of a 37 year old woman diagnosed with chronic phase CML following investigation of marked hyperleukocytosis. Fluorescence in situ hybridization (FISH) confirmed the presence of the BCR::ABL1 fusion in more than 90% of analyzed cells. Metaphase FISH showed the BCR::ABL1 fusion signal on the Philadelphia chromosome and revealed absence of BCR and ABL1 signals on the derivative chromosome 9. Multicolor FISH identified an acquired pericentric inversion involving the derivative chromosome 9, associated with codeletion of BCR and ABL1 sequences. The patient was initially treated with imatinib at a dose of 400 mg per day but failed to achieve complete cytogenetic remission after 24 months, prompting a switch to the second-generation tyrosine kinase inhibitor dasatinib, with a favorable clinical and cytogenetic response.</p><p><strong>Conclusion: </strong>This case highlights a rare cytogenetic abnormality in CML characterized by acquired pericentric inversion of the derivative chromosome 9 associated with BCR and ABL1 codeletion. Such complex rearrangements likely reflect clonal evolution and may be associated with suboptimal response to first line imatinib therapy. Accurate discrimination between constitutional and acquired inv(9), together with detailed assessment of derivative chromosome 9 integrity, is essential for prognostic stratification. Comprehensive cytogenetic and molecular analyses remain critical for identifying uncommon secondary abnormalities that may influence therapeutic response and clinical outcome in CML.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147618876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand.","authors":"Montakarn Tansatit, Nutcharee Jongpornchai, Suwannee Songchart, Kittipornpan Krajokpap, Hudadini Da-Oh","doi":"10.1186/s13039-026-00759-2","DOIUrl":"https://doi.org/10.1186/s13039-026-00759-2","url":null,"abstract":"<p><strong>Background: </strong>Hematologic malignancies frequently harbor recurrent cytogenetic abnormalities that are essential for diagnosis and prognostic stratification. The COVID-19 pandemic raised concerns that infection-related biological effects or disruptions in healthcare deliverymight influence the frequency or distribution of these abnormalities.</p><p><strong>Objective: </strong>To evaluate whether the COVID-19 pandemic was associated with changes in the frequency of chromosomal abnormalities detected in hematologic malignancies.</p><p><strong>Methods: </strong>We retrospectively analyzed 3,162 bone marrow samples referred for cytogenetic testing between 2018 and 2024 at a tertiary center in Thailand. Cases were categorized into Pre-COVID (2018-2019), Peak COVID (2020-2021), and Post-COVID (2022-2024) periods. Proportions of abnormal karyotypes and recurrent cytogenetic lesions were compared using risk ratios with 95% confidence intervals and two-proportion z-tests.</p><p><strong>Results: </strong>Overall proportions of abnormal karyotypes remained largely stable across pandemic periods. In AML, complex karyotypes (10-16%) were consistent with previously reported ranges, whereas balanced translocations such as t(15;17), t(8;21), and inv(16) occurred less frequently than reported in large international cohorts. In MDS, recurrent abnormalities including del(5q), del(20q), and complex karyotypes were underrepresented relative to published literature. In ALL, the proportion of abnormal karyotypes declined during the Peak COVID period (20.7% vs. 44.4% in the Pre-COVID period, p = 0.01) but returned to baseline levels thereafter. CLL showed a marked reduction in abnormal karyotypes during the Post-COVID period (5.7% vs. 40.0% Pre-COVID, p < 0.001). No significant temporal changes were observed in MM, MPN, or lymphoma.</p><p><strong>Conclusions: </strong>The overall cytogenetic landscape of hematologic malignancies remained largely stable throughout the COVID-19 pandemic. Observed variations in ALL and CLL are more likely related to changes in healthcare access or referral patterns rather than direct biological effects of SARS-CoV-2 infection.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa.","authors":"Jia Deng, Min Liu, Xiaowen Liu, Xianghe Meng, Yuxia Yang, Yimin Wang, Liyuan Zhou, Aimin Deng, Jinhao Liu","doi":"10.1186/s13039-026-00756-5","DOIUrl":"10.1186/s13039-026-00756-5","url":null,"abstract":"<p><strong>Background: </strong>The 45,X karyotype (X monosomy) is prevalent in females with Turner syndrome. However, in rare cases, it can also manifest in males. It typically results from an unbalanced translocation between the Y chromosome and an autosome, leading to the presence of the short arm of the Y chromosome (Yp) harboring the sex-determining region Y gene (SRY) and the concurrent deletion of the long arm of the Y chromosome (Yq) containing the azoospermia factor (AZF). This study aimed to identify the translocation of the SRY gene using chromosome conformation-based karyotyping (C-MoKa) and validate the results using FISH.</p><p><strong>Subject: </strong>A 32-year-old male, 155 cm in height, presented with normal sexual function but was unable to achieve clinical pregnancy after two years of unprotected intercourse. Three separate seminal fluid analyses indicated azoospermia. Chromosomal G-banding analysis suggested a 45,X karyotype, and CNV-seq identified a 15.16 Mb deletion in Yq11.21.</p><p><strong>Methods: </strong>Structural chromosomal variations were investigated using C-MoKa, a molecular karyotyping technique. According to the results, targeted probes were selected for validation via FISH.</p><p><strong>Results: </strong>C-MoKa identified a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2), whilst FISH analysis revealed that the patient harbored an abnormal derivative chromosome with positive signals for the CEPY/CEP15, XYpter and 15qter probes.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19099,"journal":{"name":"Molecular Cytogenetics","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13147550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}