Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
Abstract Background Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. Methods This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia. Single nucleotide polymorphism (SNP)...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1382 |
| _version_ | 1797301117550329856 |
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| author | Ken Takahashi Taisuke Sato Miyuki Nishiyama Aiko Sasaki Kosuke Taniguchi Ohsuke Migita Seiji Wada Kenichiro Hata Haruhiko Sago |
| author_facet | Ken Takahashi Taisuke Sato Miyuki Nishiyama Aiko Sasaki Kosuke Taniguchi Ohsuke Migita Seiji Wada Kenichiro Hata Haruhiko Sago |
| author_sort | Ken Takahashi |
| collection | DOAJ |
| description | Abstract Background Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. Methods This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia. Single nucleotide polymorphism (SNP) array analysis, performed by collecting DNA from each umbilical cord, showed identical SNPs in the autosomal chromosomes of both fetuses. Results Chorionic villus sampling of a 37‐year‐old primigravida carrying monozygotic twins revealed a 45,X/46,XY karyotype. Autopsy of the aborted fetuses revealed a penis and testes on one fetus and a vagina, uterus, and ovaries in the other fetus––which also had severe cystic hygroma. Cell counting using fluorescence in situ hybridization with XY probes (XY‐FISH) showed 20% and 80% abundance of 45,X cells in the internal genitalia, liver, heart, lung, adrenal gland, bone marrow, and spine of the male and female fetuses, respectively. Conclusion These results indicated that the fetuses were genetically monozygotic twins and their different degrees of mosaicism may have resulted in different genital phenotypes. |
| first_indexed | 2024-03-07T23:16:48Z |
| format | Article |
| id | doaj.art-4244c483ca464213a8c3058e0aae21c0 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:16:48Z |
| publishDate | 2020-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-4244c483ca464213a8c3058e0aae21c02024-02-21T10:24:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-09-0189n/an/a10.1002/mgg3.1382Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicismKen Takahashi0Taisuke Sato1Miyuki Nishiyama2Aiko Sasaki3Kosuke Taniguchi4Ohsuke Migita5Seiji Wada6Kenichiro Hata7Haruhiko Sago8Center for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanDepartment of Maternal‐Fetal Biology National Research Institute for Child Health and Development Setagaya‐ku Tokyo JapanCenter for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanCenter for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanCenter for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanDepartment of Maternal‐Fetal Biology National Research Institute for Child Health and Development Setagaya‐ku Tokyo JapanCenter for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanDepartment of Maternal‐Fetal Biology National Research Institute for Child Health and Development Setagaya‐ku Tokyo JapanCenter for Maternal‐Fetal‐Neonatal and Reproductive Medicine National Center for Child Health and Development Setagaya‐ku Tokyo JapanAbstract Background Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. Methods This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia. Single nucleotide polymorphism (SNP) array analysis, performed by collecting DNA from each umbilical cord, showed identical SNPs in the autosomal chromosomes of both fetuses. Results Chorionic villus sampling of a 37‐year‐old primigravida carrying monozygotic twins revealed a 45,X/46,XY karyotype. Autopsy of the aborted fetuses revealed a penis and testes on one fetus and a vagina, uterus, and ovaries in the other fetus––which also had severe cystic hygroma. Cell counting using fluorescence in situ hybridization with XY probes (XY‐FISH) showed 20% and 80% abundance of 45,X cells in the internal genitalia, liver, heart, lung, adrenal gland, bone marrow, and spine of the male and female fetuses, respectively. Conclusion These results indicated that the fetuses were genetically monozygotic twins and their different degrees of mosaicism may have resulted in different genital phenotypes.https://doi.org/10.1002/mgg3.1382discordant sexmonozygotic twinsmosaicismtwin pregnancy |
| spellingShingle | Ken Takahashi Taisuke Sato Miyuki Nishiyama Aiko Sasaki Kosuke Taniguchi Ohsuke Migita Seiji Wada Kenichiro Hata Haruhiko Sago Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism Molecular Genetics & Genomic Medicine discordant sex monozygotic twins mosaicism twin pregnancy |
| title | Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism |
| title_full | Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism |
| title_fullStr | Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism |
| title_full_unstemmed | Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism |
| title_short | Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism |
| title_sort | monochorionic diamniotic twins of discordant external genitalia with 45 x 46 xy mosaicism |
| topic | discordant sex monozygotic twins mosaicism twin pregnancy |
| url | https://doi.org/10.1002/mgg3.1382 |
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