mosaic trisomy 17 https://www.malacards.org/card/mosaic_trisomy_17 chromosome 17, trisomy 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. MEDGEN:202107 Mosaic trisomy chromosome 17 MONDO:0015730 trisomy 17 Mosaic trisomy type 17 trisomy 17 mosaicism UMLS:C1096168 chromosome 17 trisomy chromosome 17 duplication SCTID:764622004 MESH:C538044 NCIT:C37865 chromosome 17, trisomy mosaicism Orphanet:1711 GARD:0005317 chromosome 17 disorder trisomy obsolete_mosaic trisomy 17