has characteristic has characteristic disease arises from structure disease arises from alteration in structure chromosome 16 (Human) mosaic trisomy 16 https://www.malacards.org/card/mosaic_trisomy_16 trisomy 16 mosaicism MONDO:0015729 GARD:0018741 Mosaic trisomy type 16 UMLS:C4707009 MEDGEN:1633950 Orphanet:1708 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. MESH:C538041 SCTID:764621006 Mosaic trisomy chromosome 16 chromosome 16 trisomy mosaic trisomy