Recurrent miscarriages in a couple with t(4,8) and inv (9)

Authors : Diclehan ORAL, Ayşegül TÜRKYILMAZ, Selda SİMSEK

Pages : 60-65

View : 18 | Download : 12

Publication Date : 2011-12-01

Article Type : Other Papers

Abstract :Nearly 60% of all first trimester spontaneous miscarriages are due to chromosomal abnormalities. The most frequent are numerical abnormalities insert ignore into journalissuearticles values(94%);, followed by structural abnormalitiesinsert ignore into journalissuearticles values(5%); and less frequently mosaicsminsert ignore into journalissuearticles values(1%);. We report a 28 years-old couple in which an 4,8 translocation and 9 inversion has been identified during the investigation for recurrent miscarriages.They were phenotypically normal female and male. She had suffered four miscarriages in 7 years but no cytogenetic analyses had been performed in these abortuses. In karyotyping by standard G-banding techniques of peripheral blood cultures showed 46,XY,tinsert ignore into journalissuearticles values(4,8); and 46,XX,inv insert ignore into journalissuearticles values(9);. The translocation was also confirmed by FISH studies.We conclude that cytogenetic analysis should be an integral part of etiological exploration in couples with recurrent abortions
Keywords : Chromosome abnormalities, recurrent abortions, inversion