ЭНЭШТ
In present study was evaluated 68 patients with Down syndrome who undergraduate chromosome analysis in Department of Human Genetics of MCHRC. In 1.5% of these patients was detected mosaicism of trisomy 21 chromosome, 5.9% had balanced translocation of D/G. In most of patients (92.6%) was detected trisomy of 21 chromosome.
Structure of the chromosome changes obtained from our study was similar with reports of overseas researchers. In 95% of patients was observed 6 basic clinical signs of Down syndrome (wide flat face, muscle weakness, bias of the sight angle, dysmorphic digits, horizontal lines in palm, and mental deficiency) confirmed by chromosome analysis.
An balanced 45,xx+21q-13q translocation was diagnosed in mother of one Down Syndrome patient shows that investigation of parents disabled children is important. The major risk factors for Down Syndrome were mothers age, exposure to teratogenic factors during pregnancy and presence of the genetic diseases in parents.
