mosaic trisomy 17
http://purl.obolibrary.org/obo/MONDO_0015730
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. [ Orphanet:1711 ]
Term info
- UMLS:C1096168 (Orphanet:1711)
- SCTID:764622004 (MONDO:equivalentTo)
- NCIT:C37865 (MONDO:relatedTo)
- MESH:C538044 (MONDO:equivalentTo)
- Orphanet:1711 (MONDO:equivalentTo)
- GARD:0005317 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_1711, http://identifiers.org/snomedct/764622004, http://identifiers.org/mesh/C538044, http://linkedlifedata.com/resource/umls/id/C1096168
Mosaic trisomy chromosome 17, Mosaic trisomy type 17, trisomy 17 mosaicism
trisomy 17, chromosome 17 trisomy, chromosome 17 duplication, chromosome 17, trisomy, chromosome 17, trisomy mosaicism
MONDO:0015730
http://purl.obolibrary.org/obo/NCIT_C37865