ORPHA:3306
Inverted duplicated chromosome 15 syndrome
Synonyms: Duplication/inversion 15q11 · Inv dup (15) syndrome · Isodicentric chromosome 15 syndrome · Non-distal tetrasomy 15q · Non-telomeric tetrasomy 15q · idic (15) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Neonatal
- Status
- active
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inverted duplicated chromosome 15 syndrome | Duplication/inversion 15q11 · Inv dup (15) syndrome · Isodicentric chromosome 15 syndrome · Non-distal tetrasomy 15q · Non-telomeric tetrasomy 15q · idic (15) syndrome |
| fr | Syndrome de duplication inversée du chromosome 15 | Duplication/inversion 15q11 · Syndrome d'idic(15) · Syndrome d'inv dup (15) · Syndrome du chromosome 15 isodicentrique · Tétrasomie non distale 15q · Tétrasomie non télomérique 15q |
| de | Inversion/Duplikation Chromosom 15 | Chromosom 15, isodizentrisches · Duplikation/Inversion 15q11 · Duplikationssyndrom Chromosom 15q11.2-13.1 · Inv dup (15)-Syndrom · Tetrasomie 15q, nicht distal · Tetrasomie 15q, nicht-telomerische · dup15q-Syndrom · idic(15)-Syndrom |
| es | Síndrome de inversión duplicación del cromosoma 15 | Duplicación/inversión 15q11 · Síndrome Invdup(15) · Síndrome del cromosoma 15 isodicéntrico · Síndrome idic(15) · Tetrasomía intersticial 15q · Tetrasomía no terminal 15q |
| it | Sindrome da inversione/duplicazione del cromosoma 15 | Tetrasomia 15q non distale |
| nl | Inversie/duplicatie van chromosoom 15-syndroom | Duplicatie/inversie 15q11 · Inv dup (15)-syndroom · Isodicentrisch chromosoom 15-syndroom · Niet-distale tetrasomie 15q · Niet-telomerische tetrasomie 15q · idic (15)-syndroom |
| pt | Síndrome de inversão duplicação do cromossoma 15 | Tetrassomia 15q |
| pl | Duplikacja/inwersja 15q11 | idic(15) · Interstycjalna tetrasomia 15q · Inv dup(15) · Izodicentryczny chromosom 15 · Nietelomerowa tetrasomia 15q |
| cs | Duplikace/inverze 15q11 | Inv dup(15) · Izodicentrický chromozom 15 · Non-distální tetrazomie 15q · Non-telomerická tetrazomie 15q · Idic(15) |
| uk | Синдром інвертованої дуплікації хромосоми 15 | Дуплікація/інверсія 15q11 · idic (15) синдром · Синдром Inv dup (15) · Синдром ізодицентричної хромосоми 15 · Недистальна тетрасомія 15q · Нетеломерна тетрасомія 15q |
| zh | 15号染色体反向重复综合征 | 15号染色体同形双着丝粒综合征 |
| tr | İnvert duplike kromozom 15 sendromu | idic (15) sendromu · Inv dup (15) sendromu · Distal olmayan tetrazomi 15q · Duplikasyon/inversiyon 15q11 · Telomerik olmayan tetrazomi 15q · İzodikentrik kromozom 15 sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0018027 | E | validated | |
| MeSH | C580205 | E | validated | |
| UMLS | C3711376 | E | validated | |
| GARD | 5153 | E | validated | |
| MedDRA | 10081682 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.33 / 100 000 | Worldwide | Value and class | Validated | 11579431[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 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
41 annotations · validated 2018-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0002307 | Drooling | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001382 | Joint hypermobility | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0010529 | Echolalia | |
| HP:0011968 | Feeding difficulties | |
| HP:0000752 | Hyperactivity | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001250 | Seizure | |
| HP:0012169 | Self-biting | |
| HP:0006863 | Severe expressive language delay | |
| HP:0011352 | Severe receptive language delay | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000455 | Broad nasal tip | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0000135 | Hypogonadism | |
| HP:0000252 | Microcephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000322 | Short philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| Very rare (<4-1%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0100790 | Hernia | |
| HP:0000826 | Precocious puberty | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0001629 | Ventricular septal defect | |
| Excluded (0%) | ||
| HP:0002007 | Frontal bossing | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19019226[PMID]_24239951[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3306
- This record as JSON: /data/d/3306.json