Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report
Congenital heart disease (CHD) is a complex condition affecting the heart’s structure and function, leading to serious health problems. While the cause of CHD is not well understood, researchers have identified copy number variations (CNVs) as potential contributors to its pathogenesis. One such CN...
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Vietnam Ministry of Science and Technology
2024-12-01
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| Series: | Vietnam Journal of Science, Technology and Engineering |
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| Online Access: | https://vietnamscience.vjst.vn/index.php/vjste/article/view/1245 |
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| author | Thi Ha Vu Thi Hai Hoang Thi Sim Nguyen Khanh Dung Ho Thi Kim Phuong Doan |
| author_facet | Thi Ha Vu Thi Hai Hoang Thi Sim Nguyen Khanh Dung Ho Thi Kim Phuong Doan |
| author_sort | Thi Ha Vu |
| collection | DOAJ |
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Congenital heart disease (CHD) is a complex condition affecting the heart’s structure and function, leading to serious health problems. While the cause of CHD is not well understood, researchers have identified copy number variations (CNVs) as potential contributors to its pathogenesis. One such CNV is the rare chromosome 15q13 microdeletion, but its role in CHD remains unclear. In a 22-week gestation foetus, severe congenital heart defects were detected by colour Doppler ultrasound imaging. Array comparative genomic hybridisation (aCGH) was performed, revealing a 1.1 Mb deletion of the chromosome 15q13.1-q13.2 region containing five genes (APBA2, NSMCE3, TJP1, FAM189A1, LOC100130111). However, further chromosomal G-banding revealed no abnormal karyotype. Parental aCGH testing determined that this mutation was de novo. This report demonstrates the potential association between chromosome 15q13.1-q13.2 microdeletion and foetal congenital heart defects for the first time. The use of aCGH in foetuses with abnormal cardiac development diagnosed by routine cardiac colour Doppler ultrasound imaging is recommended for the early detection of congenital genetic abnormalities. This information can provide valuable insight for prenatal diagnostic consultation and decisions regarding pregnancy termination.
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| format | Article |
| id | doaj-art-8b45eb2f12de425b9abae3661169f7b3 |
| institution | Kabale University |
| issn | 2525-2461 2615-9937 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Vietnam Ministry of Science and Technology |
| record_format | Article |
| series | Vietnam Journal of Science, Technology and Engineering |
| spelling | doaj-art-8b45eb2f12de425b9abae3661169f7b32025-01-06T02:53:53ZengVietnam Ministry of Science and TechnologyVietnam Journal of Science, Technology and Engineering2525-24612615-99372024-12-0166410.31276/VJSTE.2024.0041Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case reportThi Ha VuThi Hai HoangThi Sim NguyenKhanh Dung HoThi Kim Phuong Doan Congenital heart disease (CHD) is a complex condition affecting the heart’s structure and function, leading to serious health problems. While the cause of CHD is not well understood, researchers have identified copy number variations (CNVs) as potential contributors to its pathogenesis. One such CNV is the rare chromosome 15q13 microdeletion, but its role in CHD remains unclear. In a 22-week gestation foetus, severe congenital heart defects were detected by colour Doppler ultrasound imaging. Array comparative genomic hybridisation (aCGH) was performed, revealing a 1.1 Mb deletion of the chromosome 15q13.1-q13.2 region containing five genes (APBA2, NSMCE3, TJP1, FAM189A1, LOC100130111). However, further chromosomal G-banding revealed no abnormal karyotype. Parental aCGH testing determined that this mutation was de novo. This report demonstrates the potential association between chromosome 15q13.1-q13.2 microdeletion and foetal congenital heart defects for the first time. The use of aCGH in foetuses with abnormal cardiac development diagnosed by routine cardiac colour Doppler ultrasound imaging is recommended for the early detection of congenital genetic abnormalities. This information can provide valuable insight for prenatal diagnostic consultation and decisions regarding pregnancy termination. https://vietnamscience.vjst.vn/index.php/vjste/article/view/1245arraychromosomecomparativecongenitaldefectsgenomic |
| spellingShingle | Thi Ha Vu Thi Hai Hoang Thi Sim Nguyen Khanh Dung Ho Thi Kim Phuong Doan Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report Vietnam Journal of Science, Technology and Engineering array chromosome comparative congenital defects genomic |
| title | Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report |
| title_full | Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report |
| title_fullStr | Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report |
| title_full_unstemmed | Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report |
| title_short | Chromosome 15q13.1q13.2 microdeletion in a foetus with severe congenital heart defects: A case report |
| title_sort | chromosome 15q13 1q13 2 microdeletion in a foetus with severe congenital heart defects a case report |
| topic | array chromosome comparative congenital defects genomic |
| url | https://vietnamscience.vjst.vn/index.php/vjste/article/view/1245 |
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