INHERITANCE OF A CHROMOSOME 3 AND 21 TRANSLOCATION IN THE FETUSES, WITH ONE ALSO HAVING TRISOMY 21, IN THREE PREGNANCIES IN ONE FAMILY
Pazarbasi A1,*, Demirhan O1, Alptekin D1, Ozgunen FT2, Ozpak L1, Yilmaz MB1, Nazlican E3, Tanriverdi N1, Luleyap U1, Gümürdülü D4
*Corresponding Author: Associate Professor Ayfer Pazarbasi (Ph.D.), Çukurova University, Faculty of Medicine, Department of Medical Biology and Genetics, 01330 Adana, Turkey; Tel.: +90-322-338-6060/3498; Fax: +90-322-338-6572; E-mail: payfer@cu.edu.tr
page: 91

REFERENCES

1. Beyazyurek C, Ekmekçi CG, Sağlam Y, Çinar Ç, Kahraman S. Preimplantation genetic diagnosis (PGD) for extremes—successful birth after PGD for a consanguineous couple carrying an identical balanced reciprocal translocation. Fertil Steril. 2010; 93(7): 2413.e1-2413.e5. 2. Conn CM, Cozzi J, Harper JC, Winston ML, Delhanty JDA. Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet. 1999; 36(1): 45-50. 3. Çirakoğlu A, Yilmaz S, Kuru D, Tarkan-Arguden Y, Guven GS, Deviren A, et al. Structural Chromosomal Abnormalities in Couples with Recurrent Pregnancy Loss. Turkiye Klinikleri J Med Sci, 2010;30(4): 1185-1188. 4. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991; 6(2): 245-250. 5. Demirhan O, Pazarbaşi A, Guzel AI, Taştemir D, Yilmaz B, Kazap M, et al. The reliability of maternal serum triple screening for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish women. Genet Test Molec Biomarkers. 2011; 15(10): 701-707. 6. Eggermann T, Schwanitz G. Genetics of Down syndrome. In: Dey S, Ed. Genetics and Etiology of Down Syndrome, Part 1. Rijeka, Croatia: InTech. 2011: 5-22. 7. Hassold TJ, Jacobs PA. Trisomy in man. Ann Rev Genet. 1984; 18: 69-97. 8. Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down Syndrome. Am J Hum Genet. 2000; 67(3): 623-630. 9. Kovaleva NV. Trisomy 21 in the offspring of carriers of balanced non-contributing autosomal rearrangements: examination of interchromosomal effect and non-homologous meiotic co-orientation. In: van den Bosch A, Dubois E, Eds. New Developments in Down Syndrome Research. New York, USA: Nova Science Publishers Inc. 2012: 149-176. (ISBN: 978-1-62081-893-0. Available from: https://www.novapublishers.com/catalog/ product_info.ph;?products_id=376). 10. Pazarbaşi A, Demirhan O, Turgut M, Guzel AI, Taştemir D. Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down Syndrome carrying the same translocation. Genet Counsel. 2008; 19(3): 301-308. 11. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd ed. Berlin, Germany: De Gruyter, 2001. 12. Banzal V, Suresh S, Suresh I, Jagadeesh S, Fazal GJ. Genetic counseling in chromosomal abnormalities. J Prenat Diagn Ther. 2010; 1(1): 14-19. 13. Vorzanova SG, Iourov IY, Beresheva AK, Demidova IA, Monakhov VV, Kravetz VS, et al. Nondisjunction of chromosome 21, alphoid DNA variation, and sociogenetic features of Down Syndrome. Tsitol Genet. 2005; 39(6): 30-36. 14. Hultén MA, Jonasson J, Iwarsson E, Uppal P, Vorsanova SG, Yurov YB, et al. Trisomy 21 mosaicism: we may all have a touch of Down Syndrome. Cytogenet Genome Res. 2013; 139(3): 189-192. 15. Hultén MA, Patel SD, Tankimanova M, Westgren M, Papadogiannakis N, Jonsson AM, et al. On the origin of trisomy 21 Down syndrome. Mol Cytogenet. 2008; 1:21. 16. Hultén MA, Patel S, Jonasson J, Iwarssom E. On the origin of the maternal age effect in trisomy 21 DS: the Oocyte Mosaicism Selection model. Reproduction. 2010; 139(1): 1-9. 17. Anton E, Vidal F, Blanco J. Role of sperm FISH in the genetic reproductive advice of structural reorganization carriers. Hum Reprod. 2007; 22(8): 2088-2092. 18. Gianaroli L, Magli MC, Ferraretti AP, Dunne S, Balicchia B, Escudero T, et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod. 2002; 17(12): 3201-3207. 19. Pujol A, Benet J, Staessen C, van Assche E, Campillo M, Egozcue J, et al. The importance of aneu-ploidy screening in reciprocal translocation carrier. Reproduction. 2006; 131(6): 1025-1035. 20. Kovaleva NV. Increased risk of trisomy 21 offspring in carriers of balanced non-contributing autosomal rearrangements is not explained by interchromosomal effect. Russian J Genet. 2013; 49(2): 259-268 (in Russian).



Number 23
VOL. 23, 2020 Acepted articles
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006