mosaic trisomy 17
Findings
No curated finding names mosaic trisomy 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015730), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypotonia
Show the remaining 8
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Single umbilical arteryHPOHP:0001195
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
- Cystic hygromaHPOHP:0000476
- Occasional (5% to 29% of cases)
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
- Lower limb asymmetryHPOHP:0100559
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 17
- Also called
- Mosaic trisomy chromosome 17Mosaic trisomy type 17trisomy 17 mosaicism