Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
BACKGROUND: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. PROBLEM: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings...
March 8, 2024: Genes