tetragametic chimerism
Findings
No curated finding names tetragametic chimerism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tetragametic chimerism is 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.
Definition from the Mondo Disease Ontology (MONDO:0016045), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cellular immune system morphologyHPOHP:0010987
- Very frequent (80% to 99% of cases)
- Abnormal scrotum morphologyHPOHP:0000045
- Very frequent (80% to 99% of cases)
- Abnormal testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- Abnormality of multiple cell lineages in the bone marrowHPOHP:0012145
- Very frequent (80% to 99% of cases)
- Abnormality of the ovaryHPOHP:0000137
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
Show the remaining 5
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- OvotestisHPOHP:0012861
- Very frequent (80% to 99% of cases)
- Perineal hypospadiasHPOHP:0000051
- Very frequent (80% to 99% of cases)
- True hermaphroditismHPOHP:0010459
- Very frequent (80% to 99% of cases)
- Single transverse palmar creaseHPOHP:0000954
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: tetragametic chimerism
- Also called
- 46,XX/46,XY chimerism