ABSTRACT
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. The performed cytogenetic examination have allowed to find out the translocation carriers in these families. So there was a possibility to identify a whole series of families with an increased risk of Down's syndrome even before the birth of child with Down's syndrome. Concerned families were informed about the possibilities of prenatal diagnosis.
Subject(s)
Chromosomes, Human, Pair 21 , Down Syndrome/genetics , Translocation, Genetic/genetics , Adult , Child , Down Syndrome/diagnosis , Down Syndrome/etiology , Female , Genetic Carrier Screening , Humans , Karyotyping , Male , Pedigree , Risk FactorsABSTRACT
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.
Subject(s)
Chondro-4-Sulfatase/deficiency , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidosis VI/diagnosis , Prenatal Diagnosis , Sulfatases/deficiency , Adult , Amniotic Fluid/enzymology , Child , Female , Fibroblasts/enzymology , Glycosaminoglycans/analysis , Humans , Leukocytes/enzymology , Male , Mucopolysaccharidosis VI/enzymology , Mucopolysaccharidosis VI/urine , PregnancySubject(s)
Chromosomes, Human, 6-12 and X , Mosaicism , Trisomy , Female , Humans , Infant , KaryotypingABSTRACT
A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease.
Subject(s)
Chromosome Aberrations/genetics , Genes, Dominant , Hyperostosis, Cortical, Congenital/genetics , Bone and Bones/diagnostic imaging , Chromosome Disorders , Diagnosis, Differential , Humans , Hyperostosis, Cortical, Congenital/diagnostic imaging , Infant , Male , RadiographyABSTRACT
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.
Subject(s)
Chromosomes, Human, 6-12 and X , Erythrocytes/enzymology , Glutathione Reductase/blood , Trisomy , Child , Humans , KaryotypingABSTRACT
The investigation of pharmacokinetics showed age-dependent rate of nitrofurantoin elimination in rats. Nitrofurantoin half-life of 0.41 hr in adults was prolonged to 0.95 hr in 2-weeks-old rats. Nitrofurantoin excretion rate was decreased in children younger than 2 years. Older children excreted in urine 44.32 +/- 16.07 and younger 25.07 +/- 5.7 per cent of the given dose of nitrofurantoin, indicating the lower capacity for nitrofurantoin elimination via kidneys.
