
RAPID DETECTION OF FETAL ANEUPLOIDIES
BY QUANTITATIVE FLUORESCENT-POLYMERASE
CHAIN REACTION FOR PRENATAL DIAGNOSIS
IN THE TURKISH POPULATION Guzel AI, Yilmaz MB, Demirhan O, Pazarbasi A, Kocaturk-Sel S, Erkoc MA,
Inandiklioglu N, Ozgunen FT, Sariturk C *Corresponding Author: Associate Professor Ali Irfan Guzel, Department of Medical Biology and
Genetics, Faculty of Medicine, Rize University, 53100, Rize, Turkey; Tel.: +90-464-212-30-09; Fax: +90-
464-212-30-15; E-mail: aliirfanguzel@hotmail.com page: 11
|
REFERENCES
1. Lorda-Sanchez MB, Petersen F, Binkert M. A
48,XXY,+21 Down syndrome patient with additional
paternal X and maternal 21. Hum Genet. 1991;
87(1): 54-56.
2. Hassold TJ, Jacobs PA. Trisomy in man. Annu Rev
Genet. 1984; 18(1): 69-97.
3. Von Eggeling F, Freytag M, Fahsold R, Horsthemke
B, Claussen U. Rapid detection of trisomy 21 by
quantitative PCR. Hum Genet. 1993; 91(6): 567-570.
4. Adinolfi M, Pertl B, Sherlock J. Rapid detection of
aneuploidies by microsatellite and the quantitative
fl uo-rescent polymerase chain reaction. Prenat Diagn.
1997; 17(13): 1299-1311.
5. Mansfield ES, Kronick MN. Alternative labeling
techniques for automated fluorescence based
analysis of PCR products. Biotechniques. 1993;
15(2): 274-279.
6. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos
M. Double trisomy in spontaneous miscarriages:
cytogenetic and molecular approach. Hum Reprod.
2006; 21(4): 958-966.
7. Lamb NE, Freeman SB, Savage-Austin A. Susceptible
chiasmate confi gurations on chromosome 21 predispose
to non-disjunction in both maternal meiosis I
and meiosis II. Nat Genet. 1996; 14(4): 400-405.
8. Grimshaw GM, Szczepura A, Hulten M. Evaluation
of molecular tests for prenatal diagnosis of chromosome
abnormalities. Health Technol Assess. 2003;
7(10): 1-77.
9. Leung WC, Lau ET, Lao TT, Tang MH. Rapid aneuploidy
screening (FISH or QF-PCR): the changing
scene in prenatal diagnosis? Expert Rev Mol Diagn.
2004; 4(3): 333-337.
10. Ogilvie CM. Prenatal diagnosis for chromosome
abnormalities: past, present and future. Pathol Biol.
2003; 51(3): 156-160.
11. Spathas DH, Divane A, Maniatis GM, Ferguson-
Smith ME, Ferguson-Smith MA. Prenatal detection
of trisomy 21 in uncultured amniocytes by fl uorescence
in situ hybridization: a prospective study. Prenat
Diagn. 1994; 14(11): 1049-1054.
12. Mann K, Ogilvie CM. Prenatal detection of chromosome
disorders. Lancet. 2001; 358(9293): 1030-1031.
13. Pertl B, Kopp S, Kroisel PM. Rapid detection of
chromosome aneuploidies by quantitative fl uorescence
PCR: fi rst application on 247 chorionic villus
samples. J Med Genet. 1999; 36(4): 300-303.
14. Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux
P. Rapid detection of common autosomal aneuploidies
by quantitative fl uorescent PCR on uncultured
amniocytes. Eur J Hum Genet. 2002; 10(8): 462-466.
15. Verma L, MacDonald F, Leedham P, McConachie
M, Dhanjal S, Hultén M. Rapid and simple prenatal
diagnosis of Down’s syndrome. Lancet. 1998;
352(9121): 9-12.
16. Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi
M. Assessment of diagnostic quantitative fl uorescent
multiplex polymerase chain reaction assays
performed on single cells. Ann Hum Genet. 1998;
62(1): 9-23.
|
|
|
|



 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
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 |
|
|