350 Med Arh. 2012 Oct; 66(5): 350-352 • CASE REPORT Recurrent Abortions and Down Syndrome Resulting from Robertsonian Translocation 21q; 21q DOI: 10.5455/medarh.2012.66.350-352 Med Arh. 2012 Oct; 66(5): 350-352 Received: June 28th 2012 Accepted: September 05th 2012 CONFLICT OF INTEREST: NONE DECLARED CASE REPORT Recurrent Abortions and Down Syndrome Resulting from Robertsonian Translocation 21q; 21q Selim Kolgeci¹, Mehmedali Azemi², Hasan Ahmeti³, Zeqir Dervishi 4 , Mentor Sopjani 5 , Jehona Kolgeci 5 Obstetrics and Gynecology Clinic, University Clinical Center of Kosova, Prishtina, Kosova¹. Pediatric Clinic, University Clinical Center of Kosova, Prishtina, Kosova². Pediatric Surgery Clinic, University Clinical Center of Kosova, Prishtina, Kosova³. Obstetrics and Gynecology Clinic, University Clinical Center of Kosova, Prishtina, Kosova 4 . Faculty of Medicine, University of Prishtina, Prishtinë, Kosova 5 . A im: Te purpose of the present research was a presentation of case report of Robertsonian translocation composed of homologous chromosomes 21q;21q and reproductive risk found in the family afected by this type of translocation. Methods: Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. Results: Analy- ses of cytogenetic diagnosis was performed on the couple who has been through 10 spontaneous miscarriages and two additional births with Down syndrome. Te woman had Robertsonian translocation between homologous chromosomes 21: 45XX,der(21;21)(q10;q10), and there was no change in her phenotype, whereas her husband had a normal phenotype and karyotype: 46, XY. Teir frst child with Down syndrome symptoms did not undergo the cytogenetic analysis. By cytogenetic analysis it was discovered that their second child has Trisomy 21 with Robertso- nian translocations between homologous chromosomes 21: 46,XY,+21,der(21;21) (q10;q10)mat, and that he inherited it from his mother. Conclusion: Chromosomal aberration that our patient sufered from and that is presented in this paper has caused spontaneous miscarriages and birth of children with Down syndrome. Based on cytogenetic analysis in prenatal diagnosis and genetic consultation of afected family with Robertsonian translocation 21q;21q, it is unlikely to select healthy of- spring by a parent with that aberration. Key words: Robertsonian translocation, Down syndrome, recurrent abortions. Corresponding author: Assoc. prof. Selim Kolgeci, PhD. Obstetrics and Gynaecology Clinic, University Clinical Centre of Kosova, Muharrem Fejza street nn, Prishtinë, tel: +377(44) 208-017; E-mail: selimab@hotmail.com 1. INTRODUCTION Robertsonian translocations are recognized to be the most common structural chromosomal aberrations in the population with an incidence of 1.23/1000 live births (1). Among the couples with a large number of sponta- neous miscarriages, one of the spouses can be silent carrier of Robertsonian translocation (2). Robertsonian trans- location is created by fusion of two ac- rocentric chromosomes at or near the centromere; as a result two chromo- somal long arms are joined together, thus creating a single chromosome, while their short arms which contain a small amount of genetic material are lost. Te missing genetic material con- tains only ribosomal genes. Since ribo- somal genes are present also in short arms of other acrocentric chromo- somes, lost genetic material of these persons will not cause changes in phe- notype. Robertsonian translocation can arise between diferent acrocen- tric chromosomes. In many papers pub- lished by various authors it is reported that Robertsonian translocations most often occur between the acrocentric chromosomes 13 and 14 (3). Te patho- genesis of Robertsonian translocations occurs during meiosis, and to these persons is created gametes in defcit or surplus of genetic material. For these reason silent carriers of Robertsonian translocations have higher risk of spon- taneous miscarriages and born children with anomalies. Te level of this risk de- pends on the gender of the carrier and the type of Robertsonian translocation. Carriers of Robertsonian transloca- tions created by unhomologous chro- mosomes have the opportunity to pro-