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Journal of Applied Genetics 47(1), 2006, pp. 89-91

Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15)

Tania M. Vulcani-Freitas, Vera L. Gil-da-Silva-Lopes, Marileila Varella-Garcia, Andrea T. Maciel-Guerra

Abstract: We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.

Key words: cytogenetics, fluorescence in situ hybridization, inv dup (15), male infertility, spectral karyotyping.

Correspondence: A.T. Maciel-Guerra, Department of Medical Genetics - School of Medicine State University of Campinas, CP 6111 CEP 13083-970 Campinas, SP - Brazil, e-mail:

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