We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.
- Authors
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
- 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 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.
- Subjects
FIRST trimester of pregnancy; CHROMOSOMAL translocation; PRENATAL diagnosis; GENOMICS; DOWN syndrome
- Publication
Diagnostics (2075-4418), 2024, Vol 14, Issue 16, p1732
- ISSN
2075-4418
- Publication type
Case Study
- DOI
10.3390/diagnostics14161732