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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Pre-implantation diagnosis PGT-SR Prenatal diagnosis Balanced reciprocal translocation mosaicism Genetics QH426-470
Acceso en línea:	https://doaj.org/article/983b6d3888744f768a50319e360b8a5f
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:983b6d3888744f768a50319e360b8a5f
record_format	dspace
spelling	oai:doaj.org-article:983b6d3888744f768a50319e360b8a5f2021-12-05T12:04:40ZDe 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 translocation10.1186/s13039-021-00576-91755-8166https://doaj.org/article/983b6d3888744f768a50319e360b8a5f2021-12-01T00:00:00Zhttps://doi.org/10.1186/s13039-021-00576-9https://doaj.org/toc/1755-8166Abstract 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.Shaoqin ZhangJianjiang ZhuHong QiLimei XuLirong CaiRan MengBMCarticlePre-implantation diagnosisPGT-SRPrenatal diagnosisBalanced reciprocal translocation mosaicismGeneticsQH426-470ENMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Pre-implantation diagnosis PGT-SR Prenatal diagnosis Balanced reciprocal translocation mosaicism Genetics QH426-470
spellingShingle	Pre-implantation diagnosis PGT-SR Prenatal diagnosis Balanced reciprocal translocation mosaicism Genetics QH426-470 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
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.
format	article
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
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_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_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_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
publisher	BMC
publishDate	2021
url	https://doaj.org/article/983b6d3888744f768a50319e360b8a5f
work_keys_str_mv	AT shaoqinzhang denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation AT jianjiangzhu denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation AT hongqi denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation AT limeixu denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation AT lirongcai denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation AT ranmeng denovobalancedreciprocaltranslocationmosaict13q42q25detectedbyprenatalgeneticdiagnosisafetusconceivedusingpreimplantationgenetictestingduetoat1214q22q13balancedpaternalreciprocaltranslocation
_version_	1718372271917105152

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

Ejemplares similares