Mosaic trisomy 17 syndrome
Synonyms: Mosaic trisomy chromosome 17 · Trisomy 17 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 17 syndrome | Mosaic trisomy chromosome 17 · Trisomy 17 mosaicism |
| fr | Syndrome de trisomie 17 en mosaïque | |
| de | Mosaik-Trisomie 17 | Mosaik-Trisomie Chromosom 17 |
| es | Síndrome de trisomía 17 en mosaico | Trisomía del cromosoma 17 en mosaico |
| it | Sindrome trisomia 17 in mosaico | Trisomia del cromosoma 17 in mosaico · Trisomia 17 in mosaico |
| nl | Mozaïektrisomie 17-syndroom | Mozaïektrisomie chromosoom 17 · Trisomie 17 mozaïcisme |
| pt | Trissomia 17 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 17 | = en |
| cs | Mozaiková forma trizomie 17 | = en |
| uk | Мозаїчна трисомія 17 | Мозаїчна трисомія хромосоми 17 · Трисомія 17 мозаїчність |
| zh | 17号染色体嵌合三倍体 | 嵌合17号染色体三体 |
| tr | Mozaik trizomi 17 | Trizomi 17 mozaisizmi · Mozaik trizomi kromozomu 17 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | index | validated |
| MONDO | 0015730 | E | validated | |
| UMLS | C1096168 | E | validated | |
| GARD | 5317 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98131Total autosomal trisomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 31 cases | Worldwide | Case(s) | Validated | 27751421[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27751421[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2025-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
| HP:0001195 | Single umbilical artery | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0000476 | Cystic hygroma | |
| HP:0000023 | Inguinal hernia | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002650 | Scoliosis | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 25935373[PMID]_27751421[PMID]_27099743[PMID]_21998853[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1711
- This record as JSON: /data/d/1711.json