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REPRODUCTIVE RISKS IN CARRIERS OF REARRANGEMENT OF CHROMOSOME STRUCTURE
Selim Kolgeci
Shefqet Lulaj
Mehmedali Azemi
Sažetak
Objective. To estabilish which forms with balanced translocation carry the highest risk for the birth of new unbalanced descendants. Methods. Chromosomes have been obtained from lymphocytes of the peripheral blood according¬ to the modified method of Moorehead and al., whereas the identification of chromosomes was done thorough the method of ribbons-G (Seabright). Results. Cytogenetic research of 5 families is presented. In four families, where the silent carriers were family relatives, the same translocation 6;17 was found. Out of them three women were silent carriers of balanced translocations: 46, XX, t (6;17) (p22;p13), and a male person with a karyotype: 46, XY, t (6;17) (p22;p13). The production ability of these silent carriers with balanced translocations is reduced due to spontaneous miscarriages and the delivery of children with malformations. Children with congenital malformations are carriers of partial trisomia 6p and monosomy 17p, that has occured due to the 2:2 disjunction and the adjacent balanced translocation 6;17. Balanced translocation 8;12 with segments of high translocation: 46, XY, t (8;12) (p12;q12) were found in one family. The wife of these examined patient had 7 habitual and one delivered baby. Conclusion. It is concluded that the highest risk for the delivery of babies with malformations have the silent carriers of balanced translocations with segments of short translocation.
Ključne riječi
balanced translocations; chromosome anomalies; spontaneous miscarriages
Hrčak ID:
15599
URI
Datum izdavanja:
1.12.2004.
Posjeta: 4.364 *