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
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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).
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