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Published in 2022 at "BioEssays"
DOI: 10.1002/bies.202200187
Abstract: Classic genetics studies found that genomic imbalance caused by changing the dosage of part of the genome (aneuploidy) has more detrimental effects than altering the dosage of the whole genome (ploidy). Previous analysis revealed global…
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Keywords:
genomic balance;
genomic imbalance;
expression;
play regulatory ... See more keywords
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Published in 2021 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-021-00562-1
Abstract: Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced…
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Keywords:
new case;
case 17p13;
genomic imbalance;
translocation ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.976131
Abstract: Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment. However, embryos tested by PGT-M have risks of harboring chromosomal aneuploidy.…
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Keywords:
preimplantation genetic;
genomic imbalance;
pgt;
monogenic diseases ... See more keywords