Autosomal Reciprocal Translocations

Abstract

This chapter reviews in detail the question of carriers of autosomal reciprocal translocations and the genetic risks implied for potential offspring of theirs. Examples are offered of the various possibilities due to malsegregation in gametes of theirs: adjacent-1, adjacent-2, 3:1, and the (very rare) 4:0 malsegregation. The chapter provides advice on determining the most likely modes of segregation, according to the different forms of translocation (length of centric segment, length of translocated segment, sizes of derivative chromosomes). The chapter discusses the practical problem of the apparently balanced translocation but which is associated with phenotypic abnormality. Associations w..