A5011118324- Prenatal Screening and Diagnostics
- Hedgehog Signaling Pathway Studies
- Genetic and rare skin diseases.
- Congenital Heart Disease Studies
- Chromosomal and Genetic Variations
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Tumors and Oncological Cases
Centre Hospitalier Universitaire de Besançon
2024
Université de Bourgogne
2024
We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five breakpoints. This CCR was detected prenatally 22 weeks gestation, when mild echographic indications were disclosed during a routine examination in female no family history congenital abnormalities. observation clearly illustrates what the fluorescence situ hybridization (FISH) technique can offer to analysis such rearrangements, together standard cytogenetic techniques. No imbalance...
ABSTRACT Purpose MYRF ‐related cardiac‐urogenital syndrome ( ‐CUGS) is a rare condition associated with heterozygous variants. The description of ‐CUGS phenotype mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal by reporting clinical data from fetuses neonates pathogenic variant. Methods Detailed radiographic, pathological, clinical, molecular 12 were collected through an international collaborative study. Adding five...