Publications by authors named "Viorica Ciorna-Monferrato"
Article Synopsis
- - The report discusses a patient with complete insensitivity to pain, experiencing painless fractures and joint hypermobility, linked to a family history of similar conditions among maternal relatives.
- - Genetic testing initially yielded normal results, but optical genome mapping revealed a homozygous deletion in a specific gene that causes impaired pain sensation, indicating recessive disease inheritance.
- - The study highlights the effectiveness of optical genome mapping as a diagnostic tool for identifying structural variants in cases where standard testing fails, making it a more accessible option than traditional whole-genome sequencing methods.
Article Synopsis
- A study screened 80 fetuses with congenital heart defects (CHDs) or heterotaxy, revealing a 12.5% pathogenic variant rate, especially higher in those with heterotaxy.
- Most fetuses were male, and a significant portion had additional anomalies beyond heart defects.
- The study found that genetic counseling for future pregnancies is more effective with these results, highlighting unexpected consanguinity in 20% of cases with identified variants.
