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

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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Bibliographic Details
Main Authors: Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi
Format: Article
Language:English
Published: MDPI AG 2024-08-01
Series:Diagnostics
Subjects:
prenatal diagnosis
genomic comparative hybridisation array
cytogenetic analysis
chromosomal translocation
genomic deletion
PEX3 gene
Online Access:https://www.mdpi.com/2075-4418/14/16/1732

Internet

https://www.mdpi.com/2075-4418/14/16/1732

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