Mosaic trisomy 17

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.

Also known as: Mosaic trisomy chromosome 17, Mosaic trisomy type 17, trisomy 17 mosaicism, chromosome 17 duplication, chromosome 17 trisomy, chromosome 17, trisomy, chromosome 17, trisomy mosaicism, trisomy 17

2 clinical trials for this condition and its sub-types, 0 tagged with Mosaic trisomy 17 itself.