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