J Genet Med.  2010 Dec;7(2):156-159.

The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement

  • 1Hamchoon Institute of Fertility & Genetics, Seoul, Korea. doyhwang@hamchoon.com


Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal location. However, offspring of an inversion carrier is at risk of chromosomal imbalance because an inversion loop can be formed during crossing-over of the paternal and the maternal chromosomes in meiosis. We report a 38-year-old woman with inversion and balanced translocation and her fetus with unusual rearrangement causing chromosomal imbalance. We performed conventional cytogenetic analysis, MLPA, and subtelomeric FISH in the cells of the embryo. The results showed that the distal portion of chromosome 13q was added to the terminal portion of chromosome 9p during crossing-over. Therefore, the final karyotype of the fetus was 46,XY,rec(9)t(9;13)(p22;q32)inv(9)(p12q13)mat, confirmed using molecular-cytogenetic analyzing tools.


Inversion; Balanced translocation; Molecular cytogenetics; Subtelomeric FISH; MLPA
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