Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothers

[摘要] Segregation behaviour studies in t(11;22) carriers have reported controversial results. Whereas some authors have detected a preponderance of 3:1 products, no evidence of such prevalence was found by others. This study reports a fluorescence insitu hybridization (FISH) segregation analysis on decondensed spermatozoa in two brothers, carriers of the same t(11;22)(q23;q11) rearrangement. Data revealed a similar meiotic segregation pattern in both carriers, 2:2 Alternate segregation being the most frequent (42.94 and 45%), while 3:1 genotypes were the least frequent in both patients, with percentages around 10%. The production of three chiasmata, based on the presence of G-light bands along the translocated segments and the presence of recombination sites at 11q and 22q distal regions, are proposed as the cause of a preponderance of the Alternate segregation. Interchromosomal effects involving chromosomes 13, 18, 21, X and Y were also evaluated. An increased frequency of sex chromosome disomies was detected in one patient. Reviewing the literature, a relationship between this phenomenon and the involvement of acrocentric chromosomes in the reorganization is suggested. FISH segregation and interchromosomal effects studies in spermatozoa are encouraged to gather information to establish the best approach for preimplantational genetic diagnosis in reorganization carriers.

[发布日期] 2004-12-01

[关键词] FISH;interchromosonial effects;reciprocal translocation;segregation analysis;spermatozoa