Articles with "balanced reciprocal" as a keyword



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Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.

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Published in 2019 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2019.03.003

Abstract: Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare phenomenon, mainly observed in subjects with a normal phenotype accompanied… read more here.

Keywords: mosaicism brtm; balanced reciprocal; new cases; translocation mosaicism ... See more keywords
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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

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Published in 2021 at "Molecular Cytogenetics"

DOI: 10.1186/s13039-021-00576-9

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… read more here.

Keywords: genetic testing; balanced reciprocal; preimplantation genetic; novo balanced ... See more keywords