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Issue: Vol. 562 No. 3 (2026)
Section: Các bài báo
DOI: 10.51298/vmj.v562i3.18542
Date Published: 13/08/2026
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How to Cite
Lê , M. K., Phan , N. T. V., Nguyễn , H. T., & Vũ , D. M. (2026). IDENTIFICATION OF COPY NUMBER VARIATIONS BY NEXT GENERATION SEQUENCING IN PATIENTS WITH TETRALOGY OF FALLOT. Vietnam Medical Journal, 562(3). https://doi.org/10.51298/vmj.v562i3.18542

IDENTIFICATION OF COPY NUMBER VARIATIONS BY NEXT GENERATION SEQUENCING IN PATIENTS WITH TETRALOGY OF FALLOT

Minh Khôi Lê 1,2, , Ngân Tường Vy Phan 3, Hoài Thanh Nguyễn 1, Diễm My Vũ 4
1 Bệnh viện Đại học Y Dược TP. Hồ Chí Minh
2 Trường Y, Đại học Y Dược TP. Hồ Chí Minh
3 Trường Đại học khoa học Tự nhiên TP. Hồ Chí Minh
4 Đại học Y Dược TP. Hồ Chí Minh

Main Article Content

Abstract

Background: Our research aims to identify copy number variation (CNV) by next-generation sequencing method in Tetralogy of Fallot patients with or without 22q11.2 deletion.


Methods: This study was conducted at University Medical Center, Ho Chi Minh City from 01/2025 to 12/2025. During the research period, 44 patients with Tetralogy of Fallot were enrolled, of which 22 cases were confirmed with 22q11.2 deletion.


Results: CNV analyses of the 22q11.2 deletion group resulted in additional detection of one patient with a 2p25.3 duplication and another patient with a 12q21.3 duplication. In the non-deletion group, 9q34.1, 11p15.1 and 15q13.3 duplications were obtained separately in three patients.


Conclusion: Although their clinical relevance remains to be defined, our results indicate that Tetralogy of Fallot patients can carry different CNVs besides the common 22q11.2 deletion.

Keywords

Tetralogy of Fallot, Digeorge syndrome, congenital heart disease, copy number variation

Article Details

References

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