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Biomedical subjects

I V Butomo

Publications and source records attributed to I V Butomo.

8 recordsLinked to original sources

[The origin of an extra chromosome 21 in families of children with Down syndrome].

These are the first studies on the origin of nondisjunction of trisomy 21 in the USSR. Parental contribution was established in 84 of 140 families observed. In 66% cases the nondisjunction took place in oogenesis and in 34% cases - in spermatogenesis. Among the children, who inherited the additional chromosome from father, boys predominate. Compilative work on all the data available concerning the origin of the 21 nondisjunction has been performed; the factors favouring nondisjunction in I and II mitotic divisions in female meiosis, both genetical and age-dependent, have been considered. The great importance of the disturbances taking place in spermatogenesis for etiology is emphasized. It is proved that somatic hyperploidy does not serve as an indicator of predisposition for chromosome nondisjunction in meiosis.

Adult

[Possible disorder of tissue immunity function in mothers who have given birth to a child with Down's disease].

The rates of DNA synthesis were studied in PHA-stimulated lymphocytes from the peripheral blood of mothers giving birth to a child with Down's disease. For control purposes a group of donors of the same age and sex were studied as wells. A decrease of 3H-thymidine incorporation was detected in the lymphocytes of the mothers of such children. The found differences were due to a drop of lymphocyte PH-reactivity in the older maternal age group (over 30 years). Interrelation between the changed function of the maternal immune system and the birth of children with chromosome unbalance are discussed.

Adult

[Double autosomal aberration: trisomy 21 and familial reciprocal translocation t(10;12)(p14;q21)].

A child with the Down syndrome revealed besides a regular trisomy 21, an enlargment of the short arm of chromosome 10, and the deletion of the long arm of chromosome 12. The proband's mother, who was phenothypically normal woman, appeared to be a carrier of the reciprocal translocation, her karyotype being: 46, XX, rep (10;12) (10qter leads to leads to 10p14; 12q21 leads to 12qter; 12pter leads to 12q21 : 10p14 leads to 10pter). Hence, the proband had double chromosomal aberration 47, XX, +21, rcp (10; 12) (10qter leads to 10p14 : 12q21 leads to leads to 12qter; 12pter leads to 12q21 : 10p14 leads to 10pter) mat. There is no reason to relate hard manifistation of the Down syndrome with the detected translocation. The influence of the mathernal non-devision in the meiosis and the rise of the trisomy 21 is discussed. In the following pregnancies it is advisable to amniocentesis.

Adult