mosaic trisomy 16
Findings
No curated finding names mosaic trisomy 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015729), read 2026-09-29. CC BY 4.0.
Features
41 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.
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Occasional (5% to 29% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Occasional (5% to 29% of cases)
Show the remaining 29
- Gastrostomy tube feeding in infancyHPOHP:0011471
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Horseshoe kidneyHPOHP:0000085
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- Large placentaHPOHP:0006267
- Occasional (5% to 29% of cases)
- Morphological central nervous system abnormalityHPOHP:0002011
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 16
- Also called
- Mosaic trisomy chromosome 16Mosaic trisomy type 16trisomy 16 mosaicism