MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
expandtotal autosomal trisomy (MONDO:0020051)
..Starting node
..expandmosaic trisomy 17 ()

       Child Nodes:



 Sister Nodes: 
..expanddown syndrome ()
..expandmosaic trisomy 1 ()
..expandmosaic trisomy 10 ()
..expandmosaic trisomy 12 ()
..expandmosaic trisomy 14 ()
..expandmosaic trisomy 15 ()
..expandmosaic trisomy 16 ()
..expandmosaic trisomy 17 ()
..expandmosaic trisomy 2 ()
..expandmosaic trisomy 20 ()
..expandmosaic trisomy 22 ()
..expandmosaic trisomy 3 ()
..expandmosaic trisomy 4 ()
..expandmosaic trisomy 5 ()
..expandmosaic trisomy 7 ()
..expandmosaic trisomy 8 ()
..expandmosaic trisomy 9 ()
..expandtrisomy 13 ()
..expandtrisomy 18 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15730
Name:mosaic trisomy 17
Definition: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.
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Synonyms:chromosome 17 duplication; chromosome 17 trisomy; chromosome 17, trisomy; chromosome 17, trisomy mosaicism; Mosaic trisomy chromosome 17; Mosaic trisomy type 17; trisomy 17; trisomy 17 mosaicism
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Reference: MedGen:
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MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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