Abstract

K. Szałecka, A. Gintowt, K. Ochman, A. Kuźniacka, M. Iliszko, M. Babińska, I. Kardaś, H. Żukowska, E. Kuziemska, M. Zdzitowiecka, B. Gnatowska, J. Wierzba, B. S. Lipska, J. Limon

Cytogenetic analysis was performed in 3616 patients – 1738 couples, 112 women and 28 men – all with a history of reproductive failure presenting clinically as various types of infertility, spontaneous abortions and/or delivery of a child with multiple congenital anomalies. Chromosomal aberrations were detected in 128 cases, which constituted 7,08% of the analyzed couples. Among 124 cases with structural aberrations the patients had either reciprocal or Robertsonian translocations (reciprocal translocations occurred almost three times more often than Robertosonian translocations). In addition, 18 cases of inversions were found (chromosomes engaged in inversions were 2, 4, 8, 9, 10, 12, 16, 17 and 19). Pericentric inversion of chromosome 9 was diagnosed in 53 patients, which constituted 2,94% of the analyzed couples. In three patients a marker chromosome was found, twice dup(9) and single cases of del(Y), ins(9), fra(7) were also observed. In four cases numerical aberrations of chromosome X occurred, three times in a mosaic form. Chromosomes 13, 14, 1, 3, 7, 2 and 4 were most frequently involved in aberrations, with chromosomes 13 and 14 mainly involved in Robertsonian translocations. These data provide further evidence supporting the necessity of cytogenetic evaluation of both partners in cases of various reproductive failures, including a history of at least two spontaneous abortions.