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Updated: May 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Reproductive risk of the silent carrier of Robertsonian translocation
Selim Kolgeci1, Jehona Kolgeci, Mehmedali Azemi
1Obstetrics and Gynaecology Clinic, University Clinical Center of Kosova, Prishtina, Kosova. selimab@hotmail.com
Aim:
The aim of this study was the evaluation of risk among the couples various types of Robertsonian translocations.
Methods:
Cytogenetic diagnosis has been carried out according to the Moorhead and Seabright method.
Results:
Cytogenetics diagnosis was performed in 17 couples having Robertsonian translocations. Among our examined cases, the most frequent (82.3%) cases were with Robertsonian translocations formed by aberrant fusion between heterologous chromosomes 13q and 14q. Three out of seventeen couples affected with Robertsonian translocation 13q;14q suffered from primary infertility. The total number of pregnancy among the couples with Robertsonian translocation has been 45. Of these 80% of pregnancies resulted in spontaneous miscarriages, while 20% of others have gave birth to alive or dead children. In one couple a Robertsonian translocation was caused as a result of fusion of two homologous chromosomes 15q;15q. A patient with this translocation has had 7 pregnancies and all of them ended with abortions.
Conclusion:
Robertsonian translocation caused the primary infertility in three couples and lowering reproductive abilities in 14 others. Robertsonian translocation between 15q;15q caused intrauterine death and spontaneous failures of all pregnancies of the carrier with this translocation.
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