Complex chromosomal rearrangement syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
A group of rare chromosomal anomalies characterized by constitutional structural chromosomal rearrangements, including translocations, invertions, duplications and deletions, involving at least three breakpoints on two or more chromosomes. Individuals with such arrangements may display various phenotypes including cognitive impairment, congenital abnormalities and infertility, while some can also be phenotypically normal. Both de novo and familial forms are reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complex chromosomal rearrangement syndrome | |
| fr | Syndrome de réarrangement chromosomique complexe | |
| de | Komplexes chromosomales Rearrangement | |
| es | Síndrome de reordenamiento cromosómico complejo | |
| it | Sindrome riarrangiamento cromosomico complesso | |
| nl | Complexe chromosomale herschikking-syndroom | |
| pt | Rearranjo cromossómico complexo | |
| pl | Zespół złożonej rearanżacji chromosomowej | |
| cs | Komplexní chromozomová přestavba | |
| uk | Складна хромосомна перебудова | |
| zh | 复杂染色体重排 | |
| tr | Kompleks kromozomal yeniden düzenleme |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16998 | E | validated | |
| UMLS | C5680729 | 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:98127Autosomal anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (9):
- ORPHA:72762016p13.11p11.2 triplication/16p11.2 duplication syndrome
- ORPHA:960928p inverted duplication/deletion syndrome
- ORPHA:231130Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- ORPHA:195Cat-eye syndrome
- ORPHA:96170Emanuel syndrome
- ORPHA:369950Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:3306Inverted duplicated chromosome 15 syndrome
- ORPHA:498488Overgrowth syndrome with 2q37 translocation
- ORPHA:96167Recombinant 8 syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263708
- This record as JSON: /data/d/263708.json