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) |
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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 |
format | Report |
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source | MDPI - Multidisciplinary Digital Publishing Institute; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; PubMed Central Open Access |
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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