Paolo Fontana, Laura Bernardini, Cinzia Lombardi, Maria Grazia Giuffrida, Maria Ciavarella, Anna Capalbo, Marianna Maioli, Francesca Scarano, Giuseppina Cantalupo, Mariateresa Falco, Gioacchino Scarano, Fortunato Lonardo
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after discovery of multiple anomalies (septal cystic hygroma, open abdominal wall, and a nonidentifiable lower limb). At autopsy, fluorescence in situ hybridization and array comparative genomic hybridization identified an inverted duplication with terminal deletion of 4p [46,XY,der(4)del(p16...
September 2021: Journal of Pediatric Genetics