Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > 46,XX/69,XXX mixoploidy

46,XX/69,XXX mixoploidy

Tuesday 19 December 2006

Synopsis

- growth retardation
- severe mental retardation
- cranial dysmorphism
- facial dysmorphism
- complete syndactyly of fingers 3/4
- partial syndactyly of toes 2/3
- facial asymmetry
- hypothyroidism (8301657)
- precocious puberty (8301657)
- pigmented streaks on the wrists and legs

References

- Jarvela IE, Salo MK, Santavuori P, Salonen RK. 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. J Med Genet. 1993 Nov;30(11):966-7. PMID: 8301657