抄録
Cytogenetic and clinical features are presented in a 8-month-old female infant with many clinical symptoms compatible with Down's syndrome. Leucocyte samples from this patient show 46 chromosomes. Karyotype analysis has revealed that one of the G chromosomes is missing, with the occurrence of an extra chromosome which apparently corresponds in size to the D chromosomes and carries a satellite. A tandem G/G translocation is most plausible to interpret the chromosome abnormality of this patient. The chromosomes of the parents are apparently normal.
