Biomedical subjects
Publications and source records attributed to U K Friedrich.
The technique of deciphering different chromosome abnormalities by the employment of specific DNA probes prepared by microdissection of normal or abnormal chromosomes is described. It is emphasised that in some families the diagnosis is possible only by "family specific" probes.
Two children with ring chromosome 14 are described. Both children have only few phenotypical features suggestive of a chromosome abnormality. Both have, however, epilepsy which is typical for the ring chromosome 14 syndrome. Chromosome examination is recommended in children with mental retardation and epilepsy which is refractory to treatment.
The chromosomes of a severely retarded male with extreme kyphoscoliosis and obesity 20 years were reexamined by in situ hybridization of the centromere region. Partial trisomy 18 was revealed.