Abstract
Parental balanced translocations are one etiologic factor in habitual abortion, and it also has been suggested that heterochromatic chromosomal variants, such as the “long Y,” may be associated with recurrent fetal wastage. Such possible relationships were investigated by examining Q-banded lymphocyte karyotypes in 99 women (and 81 of their mates) with a history of 2 or more spontaneous pregnancy losses; couples with a previous malformed abortus or child were not included. Amniocyte karyotypes were used as controls; these were randomly selected from an amniocentesis series coinciding with the study period of 1976-1980. Control parental histories were negative for pregnancy loss. All karyotypes were evaluated without knowledge of subject's reproductive histories.
In 7 of the 180 parents of abortuses, a gross chromosomal anomaly was found (6 translocations, I mosaic). When quantitative polymorphisms were examined, there was a significant (t test) difference between cases and controls in the length of the centromeric heterochromatic region of chromosome 16 (p<.05 for females; p<.01 for males). Cases did not differ from controls in Y chromosomal length, in the lengths of the heterochromatic regions of chromosomes I or 9, or in the frequencies of the qualitative polymorphisms studied (3c,4c,13p,13s,14p,14s,15p,15s,21p,21s,22p,22s).
These results suggest an association between recurrent fetal loss and the heterochromatic polymorphism of chromosome 16. These data do not support the previously reported relationship of Y chromosomal length to habitual abortion.
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Blumberg, B., Shulkin, J., Rotter, J. et al. 701 CHROMOSOMAL VARIANTS IN HABITUAL ABORTION. Pediatr Res 15 (Suppl 4), 559 (1981). https://doi.org/10.1203/00006450-198104001-00724
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DOI: https://doi.org/10.1203/00006450-198104001-00724