17q12 microduplication syndrome
Synonyms: Dup(17)(q12) · Trisomy 17q12
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q12 microduplication syndrome | Dup(17)(q12) · Trisomy 17q12 |
| fr | Syndrome de microduplication 17q12 | Dup(17)(q12) · Trisomie 17q12 |
| de | Mikroduplikationssyndrom 17q12 | Dup(17)(q12) · Trisomie 17q12 |
| es | Síndrome de microduplicación 17q12 | Dup(17)(q12) · Trisomía 17q12 |
| it | Sindrome da microduplicazione 17q12 | Dup(17)(q12) · Trisomia 17q12 |
| nl | 17q12-microduplicatiesyndroom | Dup(17)(q12) · Trisomie 17q12 |
| pt | Síndrome de microduplicação 17q12 | Trissomia 17q12 |
| pl | Zespół mikroduplikacji 17q12 | Dup(17)(q12) · Trisomia 17q12 |
| cs | Syndrom mikroduplikace 17q12 | Dup(17)(q12) · Trizomie 17q12 |
| uk | Синдром мікродуплікації 17q12 | Dup(17)(q12) · Трисомія 17q12 |
| zh | 17q12微重复综合征 | 17q12三体 |
| tr | 17q12 mikroduplikasyon sendromu | Dup (17) (q12) · Trizomi 17q12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614526 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.G0 | NTBT | index | validated |
| MONDO | 0013796 | E | validated | |
| UMLS | C3281137 | E | validated | |
| GARD | 13296 | 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:262968Partial duplication of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27409573[PMID] |
| Cases/families | 118 cases | Worldwide | Case(s) | Validated | 27409573[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | Denmark | Value and class | Validated | 27409573[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002539 | Cortical dysplasia | |
| Occasional (29-5%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0000175 | Cleft palate | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0006101 | Finger syndactyly | |
| HP:0000501 | Glaucoma | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0000568 | Microphthalmia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000664 | Synophrys | |
| HP:0001770 | Toe syndactyly | |
| HP:0002575 | Tracheoesophageal fistula | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261272
- This record as JSON: /data/d/261272.json