[Complete triploidy (69,XXX) surviving until the age of 7 months]

A patient with complete triploidy surviving until the age of 7 months is described. The diagnosis was established by the observation of 69,XXX chromosomes in lymphocyte and fibroblast cultures. Our findings suggest two active X chromosomes, since only one Barr body was found in buccal smear and drumsticks were within the normal range for females. Clinical findings disclosed a left-sided hemihypertrophy. There were several degenerative stigmata such as craniofacial dysmorphism, hypertelorism, low-set malformed ears and a high-arched palate. The CNS malformation consisted of microcephaly, diffuse cortical atrophy and a cavum septi pellucidi. There was soft tissue syndactily of all extremities and polydactily of the right lower extremity. Psychomotor development was severely retarded. Our patient presented with severe convulsions, retardation and recurrent bacterial infections, particularly of the respiratory tract. The girl died suddenly at the age of 7 months fulminating bilateral pneumonia. Permission for autopsy could not be obtained.