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.




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