No abstract

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

Abstract. Cytogenetic analysis of a 1-month-old boy with a phenotype similar to that typical for Down's syndrome revealed 46 chromosomes with a mirror duplication of chromosome 21. SOD-1 concentration was increased.