[Identification of families with increased risk of Down's syndrome caused by translocation of chromosome 9].

Between 1976 and 1985 in the Genetic Out-patient Department Down's syndrome was found in 260 children. In 235 children it was a result of numerical aberration, in 15 children it was a result of structural aberration (unbalanced translocation in 21 chromosome)--in 7 children t(21q21q), in 6 children t(14q21q), in 2 children t(21q22q). In 3 children translocation was transmitted by one of the parents.

Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.

The clinical course up to 6 years of age is described in a boy with Maroteaux-Lamy syndrome as indicated by the clinical characteristics: increased urinary excretion of dermatan sulphate and deficiency of arylsulphatase B in leucocytes and cultured skin fibroblasts. A subsequent pregnancy of the mother was monitored by enzyme analysis of culture amniotic fluid cells. The prenatal diagnosis of an affected fetus was made and confirmed after termination of the pregnancy.

The red cell glutathione reductase in trisomy of the chromosome 8.

About one and a half-fold increase of the red cell glutathione reductase (GSR) activity was detected in two children with trisomy of the chromosome 8. In the third child with clinical suspicion of this trisomy, but with normal karyotype, the GSR activity was normal. Evaluation of the red cell GSR activity is of diagnostic value in this syndrome.