Author:
Wan Xue,Li Linyan,Liu Zulin,Fan Zhenhai,Yu Limei
Abstract
Abstract
Background
Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype.
Case presentation
We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes.
Conclusions
It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.
Funder
Guizhou Cell Engineering Center, Education Department, Guizhou Province of China
Publisher
Springer Science and Business Media LLC
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