Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array
Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2021-03-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-021-00537-2 |
| _version_ | 1818734948421468160 |
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| author | Lili Zhou Zhaoke Zheng Yunzhi Xu Xiaoxiao Lv Chenyang Xu Xueqin Xu |
| author_facet | Lili Zhou Zhaoke Zheng Yunzhi Xu Xiaoxiao Lv Chenyang Xu Xueqin Xu |
| author_sort | Lili Zhou |
| collection | DOAJ |
| description | Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD. |
| first_indexed | 2024-12-18T00:13:28Z |
| format | Article |
| id | doaj.art-a8d2c0bb619e48efa5e54166c76a757e |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-18T00:13:28Z |
| publishDate | 2021-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-a8d2c0bb619e48efa5e54166c76a757e2022-12-21T21:27:36ZengBMCMolecular Cytogenetics1755-81662021-03-011411810.1186/s13039-021-00537-2Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism arrayLili Zhou0Zhaoke Zheng1Yunzhi Xu2Xiaoxiao Lv3Chenyang Xu4Xueqin Xu5Center of Prenatal Diagnosis, Wenzhou Central HospitalCenter of Prenatal Diagnosis, Wenzhou Central HospitalCenter of Prenatal Diagnosis, Wenzhou Central HospitalCenter of Prenatal Diagnosis, Wenzhou Central HospitalCenter of Prenatal Diagnosis, Wenzhou Central HospitalCenter of Prenatal Diagnosis, Wenzhou Central HospitalAbstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.https://doi.org/10.1186/s13039-021-00537-2uniparental disomysingle nucleotide polymorphism arrayprenatal diagnosis |
| spellingShingle | Lili Zhou Zhaoke Zheng Yunzhi Xu Xiaoxiao Lv Chenyang Xu Xueqin Xu Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array Molecular Cytogenetics uniparental disomy single nucleotide polymorphism array prenatal diagnosis |
| title | Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| title_full | Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| title_fullStr | Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| title_full_unstemmed | Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| title_short | Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| title_sort | prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array |
| topic | uniparental disomy single nucleotide polymorphism array prenatal diagnosis |
| url | https://doi.org/10.1186/s13039-021-00537-2 |
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