mosaic trisomy 15
http://purl.obolibrary.org/obo/MONDO_0015727
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. [ Orphanet:1706 ]
Term info
- UMLS:CN035788 (MONDO:equivalentTo)
- GARD:0005313 (MONDO:equivalentTo)
- Orphanet:1706 (MONDO:equivalentTo)
- SCTID:764619001 (MONDO:equivalentTo)
- MESH:C538037 (Orphanet:1706/e)
ordo_malformation_syndrome
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
http://identifiers.org/snomedct/764619001, http://identifiers.org/mesh/C538037, http://linkedlifedata.com/resource/umls/id/CN035788, http://purl.obolibrary.org/obo/Orphanet_1706
Mosaic trisomy chromosome 15, Mosaic trisomy type 15, trisomy 15 mosaicism
chromosome 15, trisomy mosaicism
MONDO:0015727