7q35q36.3 Deletion and Concomitant 20q13.2q13.33 Duplication in a Newborn: Familiar Case [post]

Domenico Dell'Edera, Arianna Allegretti, Ardea Dell'Edera Rosalba, Maria Teresa Dell'Edera, Annunziata Anna Epifania, Ludovica Mercuri, Angela Mitidieri, Francesca Simone, Mario Ventura
2020 unpublished
Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements when classical cytogenetics approaches are not sensible enough in detecting rearrangements smaller than 5-10 Mb. The use of Array-CGH has increased the detection rate of unbalanced cryptic rearrangements such as deletions and/or duplications of 10-20% We present here the first report of a patient with 7q35q36.3 microdeletion and concomitant 20q13.2q13.33 microduplication detected by array-CGH and
more » ... array-CGH and confirmed by reiterative FISH experiments associated with dysmorphism, delayed development, Long QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, respiratory distress, cognitive deficit. We proved that this unbalanced rearrangement was due to an adjacent-1 segregation inherited by the mother carrier of a balanced translocation between chromosomes 7 and 20.
doi:10.21203/rs.3.rs-67595/v1 fatcat:pljq5zcfovdo3degkiqim7k3xa