A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism
Abstract Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetra...
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12884-024-06321-5 |
| _version_ | 1797272903675281408 |
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| author | Lin Chen Li Wang Yang Zeng Daishu Yin Feng Tang Dan Xie Hongmei Zhu Lingping Li Jing Wang |
| author_facet | Lin Chen Li Wang Yang Zeng Daishu Yin Feng Tang Dan Xie Hongmei Zhu Lingping Li Jing Wang |
| author_sort | Lin Chen |
| collection | DOAJ |
| description | Abstract Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetragametic chimerism based on short tandem repeat - polymerase chain reaction analysis of the family observed during amniocentesis for advanced maternal age. The chimerism occurred via the fertilization of two ova by two spermatozoa, followed by the fusion of early embryos. The genotypes of the two amniotic fluid samples obtained successively by one puncture were completely different, and the sex chromosomes were XY. Karyotyping and copy number variation sequencing showed no abnormalities. The fetus was delivered at term and the phenotype of the newborn was normal. |
| first_indexed | 2024-03-07T14:35:59Z |
| format | Article |
| id | doaj.art-817564fb2cb444e984a3c762b635a8e9 |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-03-07T14:35:59Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-817564fb2cb444e984a3c762b635a8e92024-03-05T20:39:46ZengBMCBMC Pregnancy and Childbirth1471-23932024-02-012411610.1186/s12884-024-06321-5A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerismLin Chen0Li Wang1Yang Zeng2Daishu Yin3Feng Tang4Dan Xie5Hongmei Zhu6Lingping Li7Jing Wang8Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityDepartment of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan UniversityAbstract Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetragametic chimerism based on short tandem repeat - polymerase chain reaction analysis of the family observed during amniocentesis for advanced maternal age. The chimerism occurred via the fertilization of two ova by two spermatozoa, followed by the fusion of early embryos. The genotypes of the two amniotic fluid samples obtained successively by one puncture were completely different, and the sex chromosomes were XY. Karyotyping and copy number variation sequencing showed no abnormalities. The fetus was delivered at term and the phenotype of the newborn was normal.https://doi.org/10.1186/s12884-024-06321-5ChimerismShort tandem repeatPrenatal diagnosis |
| spellingShingle | Lin Chen Li Wang Yang Zeng Daishu Yin Feng Tang Dan Xie Hongmei Zhu Lingping Li Jing Wang A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism BMC Pregnancy and Childbirth Chimerism Short tandem repeat Prenatal diagnosis |
| title | A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism |
| title_full | A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism |
| title_fullStr | A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism |
| title_full_unstemmed | A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism |
| title_short | A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism |
| title_sort | prenatal case misunderstood as specimen confusion 46 xy 46 xy chimerism |
| topic | Chimerism Short tandem repeat Prenatal diagnosis |
| url | https://doi.org/10.1186/s12884-024-06321-5 |
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