Mosaic trisomy 12 syndrome
Synonyms: Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 12 syndrome | Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism |
| fr | Syndrome de trisomie 12 en mosaïque | |
| de | Mosaik-Trisomie 12 | Mosaik-Trisomie Chromosom 12 |
| es | Síndrome de trisomía 12 en mosaico | Trisomía del cromosoma 12 en mosaico |
| it | Sindrome trisomia 12 in mosaico | Trisomia del cromosoma 12 in mosaico · Trisomia 12 in mosaico |
| nl | Mozaïektrisomie 12-syndroom | Mozaïektrisomie chromosoom 12 · Trisomie 12 mozaïcisme |
| pt | Trissomia 12 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 12 | = en |
| cs | Mozaiková forma trizomie 12 | = en |
| uk | Мозаїчна трисомія 12 | Мозаїчна трисомія хромосоми 12 · Трисомія 12 мозаїчність |
| zh | 12号染色体嵌合三倍体 | 嵌合12号染色体三体 |
| tr | Mozaik trizomi 12 | Trizomi 12 mozaisizmi · Mozaik trizomi kromozomu 12 |
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 | attributed | validated |
| MONDO | 0015718 | E | validated | |
| UMLS | C4706889 | E | validated | |
| GARD | 5304 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28345774[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
19 annotations · validated 2024-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0000369 | Low-set ears | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000337 | Broad forehead | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0000365 | Hearing impairment | |
| HP:0100790 | Hernia | |
| HP:0000316 | Hypertelorism | |
| HP:6000010 | Linear Hyperpigmentation along Blaschko's lines | |
| HP:0000639 | Nystagmus | |
| HP:0001561 | Polyhydramnios | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
Annotation source: 36316743[PMID]_34260009[PMID]_28345774[PMID]_23548227[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1698
- This record as JSON: /data/d/1698.json