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B. APOSTOLOSKI, M. KJAEVA-PEJKOVSKA, S. NIKOLOVA
EARLY DETECTION OF HANDICAPS OF PERSONS WITH TRISOMIA OF 21 CHROMOSOME IN THE CYTOGENETIC
LABORATORY IN THE CENTER FOR MENTAL HEALTH FOR CHILDREN AND ADOLESCENTS IN
SKOPJE
Factors which contribute the appearance of handicaps are
numerous and complex. By their nature they are inherited or determined by
factors of outer environment, mostly as a result of interaction of both. In the
broad sense the genetic factors are located in 46 chromosomes in the human
cell, before all in the female and male fertilized cell e.i. the genes located
in the chromosomes which determine the function of the central nervous system.
The chromosome aberrations e.i. the visible aberrations of the chromosome
structure presents the cause for the appearance
of handicaps mostly together with some syndrome. That’s the case with
Dawn’s syndrome( mongolism) where we can find trizomia of 21 chromosome.
Relatively, the great number of
examinees (176) which we discovered in a period of 10 years from all the
places of R. Macedonia confirm the need for further
investigations. The newborns with this syndrome are children with prenatal
development finished in not adequate
way. The presence of different physical appearance on the birth and later on,
more or less, speaks about
indefinite mixture of
pathological factors in the growth of the child and the difference. The
symptoms that are discovered in these children indicate that they are retarded
in their pchylological and physical
development from the normal children, and the further growth and development are on a lower level. The
psychological, pediatrical and psychiatrical researches show that the level of intelligence of our
examinees is low, where as the social adjustment is far more better.
The examination of our examinees
was made up of taking an anamneza from the parents, mostly from the mother.
Every examinee was under taken an caryological test. Ten of them showed an
translocative type of Dauwn’s syndrome where one of the parents is the carrier of the heterological balanced
translocation. The heterological balanced translocations can be discovered only
through affected newborn child. Our researches show that the age level of
mothers of the mongoloid children does
not differ from an average in relation to mothers in the normal population.
Because the declining age of a mother can be the reason for changes in oogeneses,
the average of mothers` declining age is far smaller. Through our research we found a great number of
mothers who had given birth to a mongoloid child in the period when they were physiologically most capable for
fertilization.