Author/Authors :
Kolgeci, Selim University Clinical Center of Kosovo - Obstetrics and Gynecology Clinic, Kosovo , Azemi, Mehmedali University Clinical Center of Kosovo - Pediatric Clinic, Kosovo , Ahmeti, Hasan University Clinical Center of Kosova - Pediatric Surgery Clinic, Kosovo , Dervishi, Zeqir , Sopjani, Mentor University of Prishtina - Faculty of Medicine, Kosovo , Kolgeci, Jehona University of Prishtina - Faculty of Medicine, Kosovo
Abstract :
Aim: The purpose of the present research was a presentation of case report ofRobertsonian translocation composed of homologous chromosomes 21q;21qand reproductive risk found in the family affected by this type of translocation.Methods: Cytogenetic diagnosis has been done on chromosome preparations oflymphocytes cultured from peripheral blood by Moorhead method. Results: Analysesof cytogenetic diagnosis was performed on the couple who has been through10 spontaneous miscarriages and two additional births with Down syndrome. Thewoman had Robertsonian translocation between homologous chromosomes 21:45XX,der(21;21)(q10;q10), and there was no change in her phenotype, whereasher husband had a normal phenotype and karyotype: 46, XY. Their first child withDown syndrome symptoms did not undergo the cytogenetic analysis. By cytogeneticanalysis it was discovered that their second child has Trisomy 21 with Robertsoniantranslocations between homologous chromosomes 21: 46,XY,+21,der(21;21)(q10;q10)mat, and that he inherited it from his mother. Conclusion: Chromosomalaberration that our patient suffered from and that is presented in this paper hascaused spontaneous miscarriages and birth of children with Down syndrome. Basedon cytogenetic analysis in prenatal diagnosis and genetic consultation of affectedfamily with Robertsonian translocation 21q;21q, it is unlikely to select healthy offspringby a parent with that aberration.
