Abstract for presentation at 11th International Congress of Human Genetics

Chromosomal rearrangements occur commonly in persons with reproductive failures. We applied conventional GTG banding, cell-cycle synchronization and FISH techniques for cytogenetic analyses of 103 persons with recurrent abortions, primary amenorrhoea, azoospermia, couples with still-born or plurimalformated children. Numerical and structural aberrations were identified in 22,3% of cases. The most important factors of absolute sterility were: X monosomy, XXY, XXX, idic(Y), izo(Xq), XX karyotype in male, del(Yp), izo(Xq) and del(Xp). Mozaicisms with two or more cellular lines involving both gonosomal and autosomal aneuploidies were revealed in 6% of cases. From structural rearrangements, the most frequent found in 5% of persons with repeated spontaneous abortions is inv(9)(p11q13). Robertsonian translocation t(13;14) was found in a female who transmited it to her son with Prader-Willi syndrome. Balanced reciprocal translocations were identified in 8 persons: t(3;5) inherited maternally during three generations; t(13;18) also maternally transmited over two generations; t(5;13); and pericentric inversion inv(5)(pterq11) paternally transmited after seven spontaneous abortions of the carriers’ wife. 5 from 8 cases with balanced rearrangements involve autosome 5 either in translocations, or in inversions. That suggests a preferential involvement of chromosome 5 especially in inherited balanced abnormalities. Five balanced aberrations were inherited : t(13;14); t(5;13); t(3;5);t(13;18)and inv(5)(pterq11), which represent about 5% from investigated cases and 16% from cases with abnormal karyotypes. The rest of approximately 95% were accidental. In conclusion, cytogenetic investigation must be extended in all families of identified carriers to offer a well informed genetic counseling and prevent pregnancy wastage.
Acnowledgements: VIASAN Project 477/ 2005-2006 and CEEX 69/2006