ROBERTO BORDESE
Articles written in Journal of Genetics
Volume 100 All articles Published: 10 February 2021 Article ID 0005 RESEARCH NOTE
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
DIANA CARLI ALICE MORONI DI GREGORIO ELEONORA ANDREA ZONTA DAVIDE MONTIN FRANCESCO LICCIARDI ENRICO AIDALA ROBERTO BORDESE PACE NAPOLEONE CARLO ALFREDO BRUSCO FERRERO GIOVANNI BATTISTA ALESSANDRO MUSSA
The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability.The main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms and immunedeficiency. In 85–90% of cases, the 22q11.2 DGS is caused by a heterozygous ${\sim}$ 3-Mb deletion, including the
Volume 102, 2023
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