Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.

ABSTRACT

Reciprocal translocation t(11;22)(q23;q11) is of particular interest because the unbalanced offspring of the translocation carriers usually present with a supernumerary derivative chromosome 22. This common unbalanced karyotype is the result of 31 chromosome segregation during meiosis. We report the third case of a rare segregation pattern of a paternal 11;22 translocation. The proband's karyotype revealed the presence of a der(11) and two copies of a der(22), i.e. 47,XX,t(11;22)(q23;q11),+der(22) t(11;22)pat. The karyotype is the result of paternal 31 segregation after crossing-over involving the derived and the normal chromosome 22, as revealed by chromosome polymorphism analysis. Contrary to the preferential maternal, transmission of this common unbalanced translocation, the data from the literature, including our case, may suggest preferential paternal transmission of this rare type of unbalanced translocation.