Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation

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 the possibility of an invasive investigation. Here, we focused our...

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Veröffentlicht in:Diagnostics 2024, Vol.14 (16)
Hauptverfasser: Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Sala, Elena, Crosti, Francesca, Cozzolino, Sabrina, Verderio, Maria, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela, Cazzaniga, Giovanni, Lavitrano, Marialuisa, Conconi, Donatella
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container_end_page
container_issue 16
container_start_page
container_title Diagnostics
container_volume 14
creator Villa, Nicoletta
Redaelli, Serena
Farina, Stefania
Sala, Elena
Crosti, Francesca
Cozzolino, Sabrina
Verderio, Maria
Dalprà, Leda
Roversi, Gaia
Bentivegna, Angela
Cazzaniga, Giovanni
Lavitrano, Marialuisa
Conconi, Donatella
description 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 the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk (PEX3 deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype.
doi_str_mv 10.3390/diagnostics14161732
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subjects Fetus
Genetic aspects
Health aspects
Translocation (Genetics)
title Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation
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