Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients.
作者： O. Mart�nez-Pasarell , Carme Nogu�s , Merc� Bosch , Josep Egozcue , Cristina Templado
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摘要: Numerical sex chromosome abnormalities were analyzed in sperm from four fathers of Turner syndrome patients paternal origin to determine whether there was an increased frequency aneuploidy and elucidate meiotic malsegregation mechanisms could be involved the syndrome. Determination parental single X (maternal all cases) exclusion Y mosaicism carried out by polymerase chain reaction amplification five polymorphisms three segments. A total 45,299 nuclei 85,423 eight control donors three-color fluorescence situ hybridization. The showed a significant increase percentages XY (mean 0.22%; range 0.20% 0.22%) compared with 0.11%; 0.06% 0.18%). These results suggest that individuals have nondisjunctional errors meiosis I, resulting production proportion spermatozoa lacking chromosome.
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