Academic Journal
Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study.
| Τίτλος: | Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study. |
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| Συγγραφείς: | Zhang, Yaqin, Bai, Zongkai, Li, Rui, Yang, Han, Wang, Jinfeng, Chen, Yiying, Jin, Xiaoye |
| Πηγή: | Genetics Research; 5/17/2026, Vol. 2026, p1-10, 10p |
| Θεματικοί όροι: | Chromosome abnormalities, Chromosomes, Age groups, Chromosome banding, Disease prevalence, Demographic characteristics, Chromosomal rearrangement |
| Περίληψη: | Objective: This study aims to examine the frequency and distribution of incidental chromosomal abnormalities identified through peripheral blood karyotype analysis and to evaluate their associations with sex, age, and chromosomal characteristics. Methods: This retrospective study conducted an analysis of 2397 peripheral blood karyotype assessments carried out between September 2023 and February 2025. The study employed conventional lymphocyte culture and G‐banding techniques, with karyotypes characterized in accordance with the International System for Human Cytogenomic Nomenclature (ISCN) 2024 guidelines. Chromosomal abnormalities that did not satisfy clinical reporting criteria were systematically documented. Detection rates were evaluated and compared across different sex and age groups, as well as chromosomal categories, utilizing chi‐square tests and linear trend analysis. Results: A total of 511 cases of incidental chromosomal abnormalities were identified, yielding an overall detection rate of 21.32%. No statistically significant difference was observed in the detection rates of abnormalities between females and males (p > 0.05). However, significant differences were noted among various age groups, with detection rates exhibiting an increasing trend with advancing age (p < 0.05). The distribution of abnormalities was uneven across chromosomes, predominantly concentrated in the C and D chromosome groups. Chromosomes 7, 9, and 14 were the most frequently affected. The most prevalent types of abnormalities included balanced translocations, deletions, and inversions, with t(7; 14) and del(9) (q13) being the most commonly observed. Additionally, 23 marker chromosomes were identified, displaying considerable morphological variability. Conclusion: Incidental chromosomal abnormalities identified through peripheral blood karyotype analysis exhibit nonrandom distributions associated with variables such as age and specific chromosomes. These low‐frequency occurrences may represent underlying somatic chromosomal variation and offer valuable reference data for the interpretation of karyotypes and the enhancement of laboratory quality control. [ABSTRACT FROM AUTHOR] |
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| Βάση Δεδομένων: | Complementary Index |
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| Items | – Name: Title Label: Title Group: Ti Data: Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Zhang%2C+Yaqin%22">Zhang, Yaqin</searchLink><br /><searchLink fieldCode="AR" term="%22Bai%2C+Zongkai%22">Bai, Zongkai</searchLink><br /><searchLink fieldCode="AR" term="%22Li%2C+Rui%22">Li, Rui</searchLink><br /><searchLink fieldCode="AR" term="%22Yang%2C+Han%22">Yang, Han</searchLink><br /><searchLink fieldCode="AR" term="%22Wang%2C+Jinfeng%22">Wang, Jinfeng</searchLink><br /><searchLink fieldCode="AR" term="%22Chen%2C+Yiying%22">Chen, Yiying</searchLink><br /><searchLink fieldCode="AR" term="%22Jin%2C+Xiaoye%22">Jin, Xiaoye</searchLink> – Name: TitleSource Label: Source Group: Src Data: Genetics Research; 5/17/2026, Vol. 2026, p1-10, 10p – Name: Subject Label: Subject Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Chromosome+abnormalities%22">Chromosome abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosomes%22">Chromosomes</searchLink><br /><searchLink fieldCode="DE" term="%22Age+groups%22">Age groups</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosome+banding%22">Chromosome banding</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+prevalence%22">Disease prevalence</searchLink><br /><searchLink fieldCode="DE" term="%22Demographic+characteristics%22">Demographic characteristics</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosomal+rearrangement%22">Chromosomal rearrangement</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Objective: This study aims to examine the frequency and distribution of incidental chromosomal abnormalities identified through peripheral blood karyotype analysis and to evaluate their associations with sex, age, and chromosomal characteristics. Methods: This retrospective study conducted an analysis of 2397 peripheral blood karyotype assessments carried out between September 2023 and February 2025. The study employed conventional lymphocyte culture and G‐banding techniques, with karyotypes characterized in accordance with the International System for Human Cytogenomic Nomenclature (ISCN) 2024 guidelines. Chromosomal abnormalities that did not satisfy clinical reporting criteria were systematically documented. Detection rates were evaluated and compared across different sex and age groups, as well as chromosomal categories, utilizing chi‐square tests and linear trend analysis. Results: A total of 511 cases of incidental chromosomal abnormalities were identified, yielding an overall detection rate of 21.32%. No statistically significant difference was observed in the detection rates of abnormalities between females and males (p > 0.05). However, significant differences were noted among various age groups, with detection rates exhibiting an increasing trend with advancing age (p < 0.05). The distribution of abnormalities was uneven across chromosomes, predominantly concentrated in the C and D chromosome groups. Chromosomes 7, 9, and 14 were the most frequently affected. The most prevalent types of abnormalities included balanced translocations, deletions, and inversions, with t(7; 14) and del(9) (q13) being the most commonly observed. Additionally, 23 marker chromosomes were identified, displaying considerable morphological variability. Conclusion: Incidental chromosomal abnormalities identified through peripheral blood karyotype analysis exhibit nonrandom distributions associated with variables such as age and specific chromosomes. These low‐frequency occurrences may represent underlying somatic chromosomal variation and offer valuable reference data for the interpretation of karyotypes and the enhancement of laboratory quality control. [ABSTRACT FROM AUTHOR] – Name: Abstract Label: Group: Ab Data: <i>Copyright of Genetics Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1155/genr/4906805 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Subjects: – SubjectFull: Chromosome abnormalities Type: general – SubjectFull: Chromosomes Type: general – SubjectFull: Age groups Type: general – SubjectFull: Chromosome banding Type: general – SubjectFull: Disease prevalence Type: general – SubjectFull: Demographic characteristics Type: general – SubjectFull: Chromosomal rearrangement Type: general Titles: – TitleFull: Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zhang, Yaqin – PersonEntity: Name: NameFull: Bai, Zongkai – PersonEntity: Name: NameFull: Li, Rui – PersonEntity: Name: NameFull: Yang, Han – PersonEntity: Name: NameFull: Wang, Jinfeng – PersonEntity: Name: NameFull: Chen, Yiying – PersonEntity: Name: NameFull: Jin, Xiaoye IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 05 Text: 5/17/2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 00166723 Numbering: – Type: volume Value: 2026 Titles: – TitleFull: Genetics Research Type: main |
| ResultId | 1 |