Chromosome 17 Trisomy

A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.