De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation
Abstract Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype analysis and fluorescent in situ hyb...
| Main Authors: | , , , , , |
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| Format: | Article |
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BMC
2021-12-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-021-00576-9 |
| _version_ | 1824012833434632192 |
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| author | Shaoqin Zhang Jianjiang Zhu Hong Qi Limei Xu Lirong Cai Ran Meng |
| author_facet | Shaoqin Zhang Jianjiang Zhu Hong Qi Limei Xu Lirong Cai Ran Meng |
| author_sort | Shaoqin Zhang |
| collection | DOAJ |
| description | Abstract Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype analysis and fluorescent in situ hybridization were performed to verify the type and heredity of the rearrangement. STR analysis was conducted to identify potential contamination and verify kinship. In addition, a local BLAST engine was performed to locate potentially homologous segments which might contribute to the translocation in breakpoints of chromosome. Results A rare de novo balanced reciprocal translocations mosaicism mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] was diagnosed in a fetus conceived using preimplantation genetic testing due to a 46,XY,t(12;14)(q22;q13) balanced translocation carrier father through multiplatform genetic techniques. Two of the largest continuous high homology segments were identified in chromosomal band 1q42.12 and 3q25.2. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. Conclusion We present a prenatal diagnosis of a rare de novo balanced reciprocal translocations mosaicism in a fetus who conceived by preimplantation genetic testing. The most reasonable driving mechanism was that a de novo mitotic error caused by nonallelic homologous recombination between 1q42.12 and 3q25.2 in a zygote within the first or early cell divisions, which results in a mosaic embryo with the variant present in a half proportion of cells. |
| first_indexed | 2024-12-18T21:52:22Z |
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| id | doaj.art-983b6d3888744f768a50319e360b8a5f |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-18T21:52:22Z |
| publishDate | 2021-12-01 |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-983b6d3888744f768a50319e360b8a5f2022-12-21T20:50:30ZengBMCMolecular Cytogenetics1755-81662021-12-011411710.1186/s13039-021-00576-9De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocationShaoqin Zhang0Jianjiang Zhu1Hong Qi2Limei Xu3Lirong Cai4Ran Meng5Prenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalPrenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalPrenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalPrenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalPrenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalPrenatal Diagnosis Center, Beijing Haidian Maternal and Child Health HospitalAbstract Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype analysis and fluorescent in situ hybridization were performed to verify the type and heredity of the rearrangement. STR analysis was conducted to identify potential contamination and verify kinship. In addition, a local BLAST engine was performed to locate potentially homologous segments which might contribute to the translocation in breakpoints of chromosome. Results A rare de novo balanced reciprocal translocations mosaicism mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] was diagnosed in a fetus conceived using preimplantation genetic testing due to a 46,XY,t(12;14)(q22;q13) balanced translocation carrier father through multiplatform genetic techniques. Two of the largest continuous high homology segments were identified in chromosomal band 1q42.12 and 3q25.2. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. Conclusion We present a prenatal diagnosis of a rare de novo balanced reciprocal translocations mosaicism in a fetus who conceived by preimplantation genetic testing. The most reasonable driving mechanism was that a de novo mitotic error caused by nonallelic homologous recombination between 1q42.12 and 3q25.2 in a zygote within the first or early cell divisions, which results in a mosaic embryo with the variant present in a half proportion of cells.https://doi.org/10.1186/s13039-021-00576-9Pre-implantation diagnosisPGT-SRPrenatal diagnosisBalanced reciprocal translocation mosaicism |
| spellingShingle | Shaoqin Zhang Jianjiang Zhu Hong Qi Limei Xu Lirong Cai Ran Meng De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation Molecular Cytogenetics Pre-implantation diagnosis PGT-SR Prenatal diagnosis Balanced reciprocal translocation mosaicism |
| title | De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation |
| title_full | De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation |
| title_fullStr | De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation |
| title_full_unstemmed | De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation |
| title_short | De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation |
| title_sort | de novo balanced reciprocal translocation mosaic t 1 3 q42 q25 detected by prenatal genetic diagnosis a fetus conceived using preimplantation genetic testing due to a t 12 14 q22 q13 balanced paternal reciprocal translocation |
| topic | Pre-implantation diagnosis PGT-SR Prenatal diagnosis Balanced reciprocal translocation mosaicism |
| url | https://doi.org/10.1186/s13039-021-00576-9 |
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