Pericentric inversion of chromosome 1 and 9 in a case with recurrent miscarriage in Egypt

We report phenotypically normal female carrying structural variants on both chromosomes 1 and 9. She was referred to the Recurrent Pregnancy Loss Clinic, National Research Centre, with a complaint of repeated miscarriage (5 consecutive first trimester miscarriages). Conventional cytogenetic study of the peripheral blood of the wife revealed 46, XX inv (1) (p32 q44) in all cells and inversion (9) (p12 q12) in 30% of the studied cells, while the husband was normal 46, XY. FISH study was done to confirm and clarify the findings. To the best of our knowledge, this is the first report of a phenotypically normal female carrying structural variant on both chromosomes 1 and 9 leading to recurrent miscarriage. Our study highlights the deleterious effect of pericentric inversion of chromosomes 1 and 9 on recurrent pregnancy loss. It also underlines the importance of performing cytogenetic studies for couples with such complaint. In such cases, a well informed genetic counseling should be given to the couple and prenatal diagnosis should be offered in future pregnancies. [Journal of American Science 2010;6(8):154-156]. (ISSN: 1545-1003).