Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…The clinical features in the patient presented here are comparable with the previously reported findings for large segment 16q trisomies. Our data, similarly to earlier reports (Bacino et al, 1999; Chen et al, 2016; de Carvalho et al, 2010; Dikmetas et al, 2012; Laus et al, 2012; Mishra et al, 2018; Papadopoulou et al, 2017; Pérez‐Castillo et al, 1990; Yamada et al, 2009; Yue et al, 2019), show a near‐universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11 → qter and 16q21 → qter) to more distal partial trisomies (16q22 → qter and 16q24 → qter), we found similar frequency of IUGR, hypotonia (both 50%–70%), ear dysplasia (70%–90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Table 1).…”