[Meiotic segregation results of male reciprocal chromosome translocations].
OBJECTIVE
To analyze the meiotic segregation results of male reciprocal chromosome translocation by fluorescence in situ hybridization (FISH).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Huang
Xue-feng
XF
Reproductive Medicine Center, First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, 325000 PR China. xfhuang@hosp1.ac.cn
Xiao
Shi-quan
SQ
Fei
Qian-jin
QJ
Zhang
Wei
W
Zhang
Li-ya
LY
Yang
Xu
X
Ye
Bi-lv
BL
D019457:Chromosome Breakage; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013094:Spermatozoa / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*