Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Sign Up to like & getrecommendations! 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
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
Sign Up to like & getrecommendations! 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
Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation
Sign Up to like & getrecommendations! Published in 2024 at "Diagnostics"
DOI: 10.3390/diagnostics14161732
Abstract: When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered… read more here.
Keywords: reciprocal translocation; risk; balanced reciprocal; prenatal diagnosis ... See more keywords