Clinical significance of 45XX, t(13q14Q) Robertsonian translocation: unexpected triploidy in third abortion of female carrier.
A case report is described of a female t(13q14q) Robertsonian translocation carrier. Her firstborn daughter appeared to be a carrier of the same translocation. Chromosomal investigation of the third of three subsequent spontaneous abortions revealed a triploidy (69XXX). Literature shows discrepancies in the reported abortion rate in the reproductive performance of t(13q14q) carriers. It is concluded that these could in part be explained by heterogenicity of the study groups due to variable presence of other factors known to influence the abortion risk. In our case report treatment for epilepsy, a luteal phase defect and high numbers of spermatozoa in the sperm count of the husband must be considered as contributory factors. It is recommended to perform systematic investigations in all cases of recurrent abortion even when a chromosomal anomaly is found in one of the partners.
D000026:Abortion, Habitual / Q000209:etiology*; D000328:Adult; D002901:Chromosomes, Human, 13-15; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D011003:Ploidies; D011247:Pregnancy; D014178:Translocation, Genetic