trisomy 1q
Findings
No curated finding names trisomy 1q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
Definition from the Mondo Disease Ontology (MONDO:0016847), read 2026-09-29. CC BY 4.0.
Features
42 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.
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
- AnophthalmiaHPOHP:0000528
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Cystic hygroma
Show the remaining 30
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
- Abnormality of the outer earHPOHP:0000356
- Occasional (5% to 29% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: trisomy 1q
- Also called
- Duplication 1qtrisomy type 1q