Tetragametic chimerism syndrome
Synonyms: 46,XX/46,XY chimerism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetragametic chimerism syndrome | 46,XX/46,XY chimerism |
| fr | Syndrome de chimère tétragamétique | Chimère 46,XX/46,XY |
| de | Tetragametischer Chimärismus | 46,XX/46,XY Chimerismus |
| es | Síndrome de quimerismo tetragamético | Quimerismo 46,XX/46,XY |
| it | Sindrome chimerismo tetragametico | Chimerismo 46,XX/46,XY |
| nl | Tetragametisch chimerisme-syndroom | 46,XX/46,XY-chimerisme |
| pt | Quimerismo tetragamético | |
| pl | Zespół chimeryzmu tetragametycznego | Chimeryzm 46,XX/46,XY |
| cs | Tetragametický chimérismus | Chimérismus 46,XX/46,XY |
| uk | Тетрагаметний химерізм | 46,XX/46,XY химерність |
| zh | 四配子异源嵌合体 | 46,XX/46,XY嵌合体 |
| tr | Tetragametik kimerizm | 46, XX / 46, XY kimerizmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.0 | E | specific | validated |
| ICD-11 | LD56 | E | specific | validated |
| MONDO | 0016045 | E | validated | |
| UMLS | C0432480 | 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 (3):
- ORPHA:325546Sex chromosome difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:263749X and Y chromosomal anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
18 annotations · validated 2016-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010987 | Abnormal cellular immune system morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
| HP:0000137 | Abnormality of the ovary | |
| HP:0000045 | Abnormality of the scrotum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000048 | Bifid scrotum | |
| HP:0010970 | Blood group antigen abnormality | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0008723 | Gonadal dysgenesis with female appearance, male | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000054 | Micropenis | |
| HP:0012861 | Ovotestis | |
| HP:0000051 | Perineal hypospadias | |
| HP:0010459 | True hermaphroditism | |
| Frequent (79-30%) | ||
| HP:0000954 | Single transverse palmar crease | |
| Excluded (0%) | ||
| HP:0001263 | Global developmental delay | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19777529[PMID]_20664426[PMID]_23726690[PMID]_24706113[PMID]_17430077[PMID]_1743077[PMID]_17917028[PMID]_19154517[PMID]_19255770[PMID]_20692777[PMID]_21554308[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199310
- This record as JSON: /data/d/199310.json