
pmid: 23678842
The aim of this study was the evaluation of risk among the couples various types of Robertsonian translocations.Cytogenetic diagnosis has been carried out according to the Moorhead and Seabright method.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.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.
Chromosomes, Human, Pair 14, Male, Chromosomes, Human, Pair 13, Karyotype, Translocation, Genetic, Pedigree, Pregnancy, Infertility, Humans, Female
Chromosomes, Human, Pair 14, Male, Chromosomes, Human, Pair 13, Karyotype, Translocation, Genetic, Pedigree, Pregnancy, Infertility, Humans, Female
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