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Chinese Journal of Medical Genetics ; (6): 217-220, 2007.
Article in Chinese | WPRIM | ID: wpr-247348

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the meiotic segregation results of male reciprocal chromosome translocation by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Multi-color FISH using 3 combined probes located in any 3 chromosome segments on both sides of two breakpoints was performed on the de-condensed sperm head to analyze the sperm chromosomal contents and segregation patterns.</p><p><b>RESULTS</b>Four male reciprocal translocation carriers were included in the study, with the karyotypes of 46, XY, t(2;18) (p16; q23); 46, XY, t(4;6) (q34;q21); 46, XY, t(8;13) (q23;q21) and 46, XY, t(4;5) (4q31;5q13), respectively. The results showed that 4 carriers had different proportions of various segregated spermatozoa. The spermatozoa of alternate, adjacent-1, adjacent-2, 3:1, non-disjunction in meiosis II, and 4:0 or diploidy accounted for 27.1%-49.4%, 26.9%-37.6%, 2.7%-15.7%, 8.6%-32.7%, 0.2%-1.9%, and 0.1%-0.4%, respectively.</p><p><b>CONCLUSION</b>For each-reciprocal translocation carrier seems to have a particular meiotic segregation results, FISH analysis on sperm head should be done for each carrier in order to provide an accurate genetic counseling.</p>


Subject(s)
Humans , Male , Chromosome Breakage , Heterozygote , In Situ Hybridization, Fluorescence , Karyotyping , Meiosis , Genetics , Spermatozoa , Metabolism , Translocation, Genetic , Genetics
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