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

B. APOSTOLOSKI, M. KJAEVA-PEJKOVSKA, S. NIKOLOVA

Abstract


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.


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