Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report
Abstract Background Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin...
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BMC
2025-02-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-025-00707-6 |
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| author | Onyinye O. Okonkwo Veronica Ortega Sheila Kane Galina Aldrete Paulina Ramirez Philip T. Valente Gopalrao V.N. Velagaleti |
| author_facet | Onyinye O. Okonkwo Veronica Ortega Sheila Kane Galina Aldrete Paulina Ramirez Philip T. Valente Gopalrao V.N. Velagaleti |
| author_sort | Onyinye O. Okonkwo |
| collection | DOAJ |
| description | Abstract Background Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin and content and clinical features. CHM have a diploid karyotype, mostly 46,XX but lack maternal genetic contribution with all chromosomes of paternal origin. High-resolution SNP microarray testing is an efficient method used to determine the parental contribution of the genomic material in molar pregnancies and confirm the diagnosis. Case presentation We present a case of CHM in a 43-year-old, G3P2Ab1 who presented to the emergency department with 2 episodes of heavy bleeding. Chromosome analysis showed a normal 46,XX karyotype but with a homozygous pericentric inversion on chromosome 9. High-resolution SNP microarray studies detected whole genome uniparental isodisomy. Conclusion We present a case of CHM with homozygous pericentric inversion on chromosome 9 and whole genome uniparental isodisomy. This case illustrates the efficacy of high-resolution SNP microarray in confirming the diagnosis of CHM. |
| format | Article |
| id | doaj-art-1cf52737e1824b2c95978d19e9cc8b3d |
| institution | DOAJ |
| issn | 1755-8166 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj-art-1cf52737e1824b2c95978d19e9cc8b3d2025-08-20T02:59:37ZengBMCMolecular Cytogenetics1755-81662025-02-011811710.1186/s13039-025-00707-6Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case reportOnyinye O. Okonkwo0Veronica Ortega1Sheila Kane2Galina Aldrete3Paulina Ramirez4Philip T. Valente5Gopalrao V.N. Velagaleti6Departments of Pathology and Laboratory Medicine, UT-Health San AntonioDepartments of Pathology and Laboratory Medicine, UT-Health San AntonioDepartments of Pathology and Laboratory Medicine, UT-Health San AntonioDepartments of Pathology and Laboratory Medicine, UT-Health San AntonioDepartment of Obstetrics and Gynecology, UT-Health San AntonioDepartments of Pathology and Laboratory Medicine, UT-Health San AntonioDepartments of Pathology and Laboratory Medicine, UT-Health San AntonioAbstract Background Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin and content and clinical features. CHM have a diploid karyotype, mostly 46,XX but lack maternal genetic contribution with all chromosomes of paternal origin. High-resolution SNP microarray testing is an efficient method used to determine the parental contribution of the genomic material in molar pregnancies and confirm the diagnosis. Case presentation We present a case of CHM in a 43-year-old, G3P2Ab1 who presented to the emergency department with 2 episodes of heavy bleeding. Chromosome analysis showed a normal 46,XX karyotype but with a homozygous pericentric inversion on chromosome 9. High-resolution SNP microarray studies detected whole genome uniparental isodisomy. Conclusion We present a case of CHM with homozygous pericentric inversion on chromosome 9 and whole genome uniparental isodisomy. This case illustrates the efficacy of high-resolution SNP microarray in confirming the diagnosis of CHM.https://doi.org/10.1186/s13039-025-00707-6Complete hydatidiform mole (CHM)Uniparental disomy (UPD)Single nucleotide polymorphism (SNP) microarrayHomozygous inversion |
| spellingShingle | Onyinye O. Okonkwo Veronica Ortega Sheila Kane Galina Aldrete Paulina Ramirez Philip T. Valente Gopalrao V.N. Velagaleti Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report Molecular Cytogenetics Complete hydatidiform mole (CHM) Uniparental disomy (UPD) Single nucleotide polymorphism (SNP) microarray Homozygous inversion |
| title | Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report |
| title_full | Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report |
| title_fullStr | Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report |
| title_full_unstemmed | Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report |
| title_short | Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report |
| title_sort | whole genome uniparental isodisomy detected using single nucleotide polymorphism snp microarray in molar pregnancy a case report |
| topic | Complete hydatidiform mole (CHM) Uniparental disomy (UPD) Single nucleotide polymorphism (SNP) microarray Homozygous inversion |
| url | https://doi.org/10.1186/s13039-025-00707-6 |
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