АРPLICATION OF FISH-METHOD IN IDENTIFICATION OF CRYPTIC MOSAICISM INVOLVING SEX CHROMOSOMES IN COUPLES WITH REPRODUCTIVE FAILURE

Authors

  • S. V. Denysenko Clinic of Problems of Family Planning of Ministry of Public Health of Ukraine

DOI:

https://doi.org/10.11603/mie.1996-1960.2011.1.50

Abstract

The application of FISH-method on interphase cells with centromeric probes for chromosomes X and Y is described as used together with the traditional cytogenetic methods for the screening minor sex aneuploid cell lines among the couples with reproductive problems.

References

Schinzel A. Catalogue of unbalanced chromosome aberrations in man / A. Schinzel // New York: Walter de Gruyter. - 2001. - P. 360-368.

Krishna Murthy D. Reccurent regular trisomy-21 in two Bedouin families. Parental mosaicism versus genetic predisposition Krishna D. Murthy, T. Farag // Ann Genet. -1995. - Vol. 38. - P. 217-224.

Bruye're H, Rupps R Kuchinka B, Friedman J, Robinson W. Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line // Am. J. Med. Genet. - 2000. - 94. -P. 35-41.

Ворсанова С.Г. Аномалии половых хромосом при нарушении репродуктивной функции у мужчин / Ворсанова С. Г., Шаронин В. О., Курило Л. Ф. // Проблемы репродукции. - 1998. - 2. - C. 12-21.

Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection / U. Mau, I.. Backert, P. Kaiser, L. Kiesel // Hum. Reprod. -1997. - Vol. 12. - P. 930-937.

Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection - prevalence, types, sex distribution and reproductive relevance / D. Meschede, B. Lemcke, J. Exeler [et al. ]// Hum. Reprod. -1998. - Vol. 13. - P 576-582.

Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection / B. Peschka, J. Leygraaf, van der Ven K. [et al.] // Hum Reprod. - 1999. - Vol. 14. - P. 2257-2263.

Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection / Schreurs A., Legius E., Meuleman C. [et al.] // Fertil Steril. - 2000. - Vol. 74. - P. 94-96.

Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men / J. Gekas, F. Thepot, C. Turleau [et al.' // Hum. Reprod. -2001. - Vol. 16. - P. 82-90.

Yoshida A. Chromosome abnormalities and male infertility / A. Yoshida, M. Kazukiyo, M. Shirai // Assist Reprod Rev. -1995. - Vol. 6. - P. 93-99.

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review / G. Tachdjian, N. Frydman, Morichon-N. Delvallez [et al.] // Hum. Reprod. -2003. - Volo. 18. - P. 271-275.

Chromosomal abnormalities and Y chromosome microdeletions in infertile men with varicocele and idiopathic infertility of South Indian origin / Rao L., Babu A., M. Kanakavalli [et al.] // J. Androl. - 2004. - Vol. 25. - P. 147-153.

Impact of parental gonosomal mosaicism detected in peripheral blood on preimplantation embryos / Magli M., Gianaroli L., Ferraretti A. [et al.] // Reprod. Biomed Online. -2002. - Vol. 5. - P. 306-312.

Kalousek D. Pathogenesis of chromosomal mosaicism and its effect on early human development / D. Kalousek // J. Am. Med. Genet. - 2000. - Vol. 91. - P. 39-45.

Youssoufian H. Mechanisms and consequences of somatic mosaicism in humans / H. Youssoufian, R. Pyeritz / Nature -2002. - Vol. 3. - P. 748-758.

Ворсанова С.Г., Хромосомные синдромы и аномалии. Классификация и номенклатура // С.Г. Ворсанова, Ю.Б. Юров, В.Н. Чернышов . - Ростов-на-Дону - 1999. - 191с.

Variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization / Mark H., Bai H., Sotomayor E. et al. // Exp. Mol. Pathol. - 1999. - Vol. 67. - P. 50-56.

Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-color FISH in a 46,XY/47,XXY male / E. Chevret, S. Rousseaux, M. Monteil [et al.] // Hum.Genet. -1996. - Vol. 97. - P. 171-175.

More F. Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection / F. Morel, F. Gallon , V Amice // Hum. Reprod. - 2002. - Vol. 17. - P. 2552-2555.

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome / N.B. Abdelmoula, A. Amouri, M. Portnoi [et al.] // Ann Genet. - 2004. - Vol. 47. - P. 163-175.

Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46rXY/47,XXY males: comparison with fertile and infertile males with normal karyotype / N. Rives, G. Joly, A. Machy [et al.] // Mol. Hum. Reprod. - 2000. - Vol. 6. -P.107-112.

Risk of trisomy 21 in offspring ofpatients with Klinefelter's syndrome / A. Hennebicq, R Pelletier, U. Bergues, S. Rousseaux/ / Lancet - 2001. - Vol. 357. - P. 2104-2105.

Venkataraman G. Triple-Y syndrome following ICSI treatment in a couple with normal chromosomes / G. Venkataraman, I. Craft // Hum. Reprod. - 2002. - Vol. 17. - P. 2560-2563.

Published

2012-11-02

How to Cite

Denysenko, S. V. (2012). АРPLICATION OF FISH-METHOD IN IDENTIFICATION OF CRYPTIC MOSAICISM INVOLVING SEX CHROMOSOMES IN COUPLES WITH REPRODUCTIVE FAILURE. Medical Informatics and Engineering, (1). https://doi.org/10.11603/mie.1996-1960.2011.1.50

Issue

Section

Articles