UDK 575.116.4 (497.1)(045)=111

 NUMERIC ABBERATION OF EIGHTEENTH CHROMOSOME

(EDWARDS’ SYNDROM) IN A NEWBORN INFANT OF FEMALE SEX

Vojislav NOVOSEL 1)

S y n o p s i s

            Cytogenetic analysis of chromosome in a newborn infant of female sex has demonstrated a classic trisomy of the 18th pair of chromosomes. It has been established that the excess chromosome in the complex belongs to the eighteenth pair, therefore the karyotype has been characterized as: 47,XX+18. Not dividing of chromosome in gametogenesis of one of the parents is the consequence of this aberration. It is possible that the age of parents (mother 42, father 47) have had a decisive influence on not dividing the homologous pairs of the 18th chromosomes owing to the mutations on synaptic complexes of chiasmic links between the homologues or due to anomalous functioning of spindle fiber in anaphase of meiotic division.

                    NUMERIČKA ABERACIJA OSAMNAESTOG HROMOZOMA (EDWARDSOV SINDROM) KOD NOVOROĐENČETA

ŽENSKOG POLA

S i n o p s i s 

Citogenetička analiza hromozoma kod novorođenčeta ženskog pola pokazala je da se radi o klasičnoj trizomiji 18 para hromozoma. Utvrđeno je da suvišni hromozom u kompleksu pripada 18 paru, pa je kariotip okarakterisan kao: 47, XX + 18. Nerazdvajanje hromozoma u gametogenezi jednog od roditelja je posljedica ove aberacije. Vjerovatno da su starosne godine roditelja (majke 42, otac 47) imale presudan uticaj na nerazdvajanje homologih parova 18 hromozoma usljed mutacija na sinaptičkim kompleksima hijazmičnih veza između homologa ili zbog nepravilnog funkcionisanja vlakana diobenog vretena u anafazi mejotičke diobe.