CHROMOSOMAL MOSAICISM IN THE PATIENTS WITH TURNER'S SYNDROME
Vyatkina S1., Nagornaya I1,3., Loginova J1,3., Lyazina L2., Vasileva I2., Prozorova M2., Verlinskaya D2., Kuznetzova T 1 Baranov V.S. 1
*Corresponding Author: Professor Dr. Vladislav S. Baranov, Laboratory of Prenatal Diagnosis of Inherited Disorders, 1The D. O. Ott Institute of Obstetrics & Gynecology, the Russian Academy of Medical Sciences, Mendeleevskaya l., 3, Saint Petersburg, Russia fax +7 (812) 328 04 87; e-mail: svetavyach@mail.ru 2 Saint Petersburg Centre for Medical Genetics, Tobolskaya ul., 5, Saint Petersburg, Russia fax +7 (812) 542 67 76, e-mail: gkdmgenc@zdrav.spb.ru 3Russian-Finnish Medical Centre "AVA-Peter", Nevskii pr., 22/24, Saint Petersburg, Russia fax: +7 (812) 314 51 19, e-mail: avapeter@bcltele.com
page: 17

REFERENCES

1.      Bochkov N.P.Clinical genetics. - M.: Medicine, 1997. –287 p.

2.      Kuznetzova T.V., Loginova J.A., Chiryaeva O.G., Pendina A.A., Baranov V.S. Cytogenetic methods // In book: Medical laboratory technologies (Directory). Edited by Karpishchenko A.I. -SPb: Intermedika, 1999. - V. 2. - pp. 550-578.

3.      Loginova J.A., Nagornaya I.I., Shlykova S.A., etc. Cytogenetic research and microdeletion analysis of loci AZF at patients with azoospermia and oligospermia not clear genesis before carrying out IKSI // Problems of a reproduction. - 2000. – N. 5. – pp. 25-29.

4.       Ivashchenko T.E., Aseev M.V., Baranov V.S. Molecular diagnostic method's of gene diseases  // In book: Medical laboratory technologies (Directory). Edited by Karpishchenko A.I. - SPb: Intermedika, 1999. - V. 2. - pp. 603-617.

5.       Nazarenko S.A., Timoshevski V.A., Ostroverhova N.V. Interphase analysis of X-aneuploidy by method of fluorescent in situ hybridization in different tissues of healthy persons // Genetics. - 1997. - V.33. – N. 10. - pp. 1426-1430.

6.      Mashkova M.V. Disorders of sex and physical development in women caused sex chromosomes mosaicism (variants of Turner’s syndrome): Thesis.... kand.of med. sciences. - L., 1974. - 160 p.

7.      Hanson L, Bryman I, Janson PO. et al. Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue // Hereditas. – 2002. – V. 137. – N. 1. – P. 1-6.

8.      Held K., Kerber S., Kaminsky E., et.al. Mosaicism in 45,X Terner syndrome: does survival in early pregnancy depens on the two sex chromosomes // Hum.Gen. - 1992.  – V. 88. - P. 288-294.

9.      Nazarenko SA, Timoshevsky VA, Sukhanova NN. High frequency of tissue-specific mosaicism in Turner syndrome patients // Clin. Genet. – 1999. – V. 56. – N. 1. – P. 59-65.

10.  Hook E., Warbington D. The distribution of chromosomal genotypes associated with Turners sundrome: live birth prevalence rates & evidence for diminished fetal mortality & severity in genotypes associated with structural X abnormalities of mosaicism // Hum.Gen. - 1983. – V. 64. - P. 24-27.

11.  Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: is cytogenetically undetected Y mosaicism common? // J. Clin. Endocrinol. Metab. – 1995. – V. 80. – N. 12. – P. 3532-3536.

12.  Coto E., Toral J., Menendez M.et.al. PCR-based study of the presence of Y-chromosome sequences in patients with Ulrich-Turner syndrome // Am.J.Med.Gen. -1995. - V. 57. - T. 3. - P. 393-396.

13.  Fernandez-Garcia R, Garcia-Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of 'hidden' mosaicism // Clin. Genet. – 2000. – V. 58. – N. 3. – P. 201-208.

14.  Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. Molecular study of 45,X conceptuses: correlation with clinical findings // Am. J. Med. Genet. – 1992. – V. 15. – T. 42. – N. 4. – P. 487-90.

15.  Yorifuji T., Muroi J., Kawai M.et.al. PCR-based detection of mosaicism in Turner syndrome patients // Hum.Gen. - 1997. - V. 99. - T. 1. - P.62-65.

16.  Hanson L, Bryman I, Barrenas ML et al. Genetic analysis of mosaicism in 53 women with Turner syndrome // Hereditas. – 2001. – V. 134. – N. 2. – P. 153-159.

17.  Eastmond D.A., Pinkel D. Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome-specific DNA probes // Devel.Biol. - 1991. - V. 234. - P. 303-318.

18.  Jacobs P, Dalton P, James R. Turner syndrome: a cytogenetic and molecular study // Ann Hum Genet. – 1997. -  V. 61. – N. 6.  P. 471-83.

19.  Reddy KS, Sulcova V. Pathogenetics of 45,X/46,XY gonadal mosaicism // Cytogenet. Cell Genet. - 1998. – V. 82. – N. 1-2. – P. 52-7.

20.  Mendes JR, Strufaldi MW, Delcelo R. Et al. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism // Clin. Endocrinol. -  1999. – V. 50. – N. 1. – P. 19-26.

21.  Osipova GR, Karmanov ME, Kozlova SI, Evgrafov OV. PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: clinical implications and limitations // Am. J. Med. Genet. – 1998. – V. 1. – T. 76. – N. 4. – P. 283-7.




Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
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

 

 


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