Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization

作者: N. Nishikawa , T. Sato , N. Suzumori , S. Sonta , K. Suzumori

DOI: 10.1111/J.1365-2605.2007.00759.X

关键词:

摘要: Balanced reciprocal and Robertsonian translocations are the most common structural chromosome abnormalities in humans, with incidences of 0.7 1.23 per 1000. These can affect fertility and/or pregnancy outcome because possibly impaired production gametes an unbalanced zygote caused by parental arrangement. Fertility problems male translocation carriers various degrees sperm alterations that directly related to disturbance meiotic process. Investigation human chromosomes was performed karyotyping spermatozoa after penetration zona-free hamster oocytes, karyotype analysis now being possible analyse segregation patterns using fluorescent situ hybridization (FISH). Here, we document results for four FISH. In males, majority were normal/balanced. On other hand, males demonstrated a high rate about 50% on segregation, unusually (23.5%) 3 : 1 segregation. This knowledge be used genetic counselling families these types translocations.

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