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

Year 2011, Volume: 2 Issue: 2, 60 - 65, 01.12.2011

Diclehan Oral Ayşegül Türkyılmaz Selda Simsek

Abstract

Nearly 60% of all first trimester spontaneous miscarriages are due to chromosomal abnormalities.
The most frequent are numerical abnormalities (94%), followed by structural abnormalities(5%)
and less frequently mosaicsm(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,t(4,8)
and 46,XX,inv (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