Recurrent Abortions and Down Syndrome Resulting from Robertsonian Translocation 21q; 21q
Selim Kolgeci, Mehmedali Azemi, Hasan Ahmeti, Zeqir Dervishi, Mentor Sopjani, Jehona Kolgeci
Med Arh. 2012; 66(5): 350-352

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Aim: The 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 affected by this type of translocation. Methods: Cytogenetic diagnosis has been done on chromosome preparations of lymphocytes cultured from peripheral blood by Moorhead method. Results: Analyses of cytogenetic diagnosis was performed on the couple who has been through 10 spontaneous miscarriages and two additional births with Down syndrome. The 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. Their first 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 Robertsonian 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 suffered 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 affected family with Robertsonian translocation 21q;21q, it is unlikely to select healthy offspring by a parent with that aberration.


1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991; 87(1): 81-83.

2. Dubey S, Chowdhury MR, Prahlad B, Kumar V, Mathur R, Hamilton S, Kabra M, Menon P SN, Verma IC. Cytogenetic causes for recurrent spontaneous abortions. An experience of 742 couples (1484 cases). Indian Journal of Human Genetics. 2005; 11(2): 94-98.

3. Jacobs PA. Mutation rates of structural chromosome rearrangements in man. Am J Hum Genet. 1981; 33(1): 44-54.

4. Munné S, Escudero T, Sandalinas M, Sable D, Cohen J. Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet. 2000; 90(3-4): 303-308.

5. Sudha T, Gopinath PM. Homologous Robertsonian translocation (21q21q) and abortions. Hum Genet. 1990; 85(2): 253-255.

6. Al-Alaiyan S, Al-Omran H, Kattan H, Sakati N, Nyhan WL. Down syndrome and recurrent abortions resulting from Robertsonian translocation 21q21q. Ann Saudi Med. 1995; 15(4): 391-392.

7. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960; 20:613-616.

8. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971; 2(7731): 971-972.

9. Acar H, Yildirim MS, Cora T, Ceylaner S. Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique. Mol Reprod Dev. 2002; 63(2): 232-236.

10. Berend SA, Horwitz J, McCaskill C, Chaffer LG. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet, 2000; 66: 1787-1793.

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