Home > D. General 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