ORPHA:727620
16p13.11p11.2 triplication/16p11.2 duplication syndrome
Synonyms: Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome · Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p13.11p11.2 triplication/16p11.2 duplication syndrome | Tetrasomy 16p13.11p11.2/trisomy 16p11.2 syndrome · Trip(16)(p13.11p11.2)/Dup(16)p(11.2) syndrome |
| fr | Syndrome de triplication 16p13.11p11.2/duplication 16p11.2 | Syndrome de tétrasomie 16p13.11p11.2/trisomie 16p11.2 · Syndrome de trip(16)(p13.11p11.2)/Dup(16)p(11.2) |
| de | 16p13.11p11.2-Triplikation/16p11.2-Duplikation | Trip(16)(p13.11p11.2)/Dup(16)p(11.2)-Syndrom · Tetrasomie-16p13.11p11.2/Trisomie-16p11.2-Syndrom |
| es | Síndrome de triplicación/duplicación 16p13.11p11.2 | Síndrome de tetrasomía 16p13.11p11.2/trisomía 16p11.2 · Síndrome Trip(16)(p13.11p11.2)/Dup(16)p(11.2) |
| it | Sindrome triplicazione 16p13.11p11.2 /duplicazione 16p11.2 | Sindrome Trip(16)(p13.11p11.2)/Dup(16)p(11.2) · Sindrome tetrasomia 16p13.11p11.2/trisomia 16p11.2 |
| nl | 16p13.11p11.2-triplicatie/16p11.2-duplicatiesyndroom | Trip(16)(p13.11p11.2)/Dup(16)p(11.2)-syndroom · Tetrasomie 16p13.11p11.2/trisomie 16p11.2-syndroom |
| pt | 16p13.11p11.2 triplication/16p11.2 duplication syndrome | |
| pl | 16p13.11p11.2 triplication/16p11.2 duplication syndrome | = en |
| cs | 16p13.11p11.2 triplication/16p11.2 duplication syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 35388186[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35388186[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727620
- This record as JSON: /data/d/727620.json