3q26 microduplication syndrome
3q26 microduplication syndrome
Definition
3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
Also known as Cornelia de Lange-like syndrome, dup(3)(q26), dup(3q) syndrome, trisomy 3q26 — per MONDO