Autosomal Structural Rearrangements

Abstract

This chapter considers the question of autosomal deletions and duplications, first from the aspect of presumed mechanisms by which they may arise, and then followed by a lengthy (but not encyclopedic) listing of specific imbalances. This listing is informed by the increased knowledge enabled by modern molecular karyotyping, and a number of conditions are those only of twenty-first century discovery. Conditions are listed by the chromosome involved, and each section is headed by a diagram showing the specific segments under consideration. In each, wherever known, a comment is made on possible de novo versus inherited forms, and inferences are drawn as to any recurrence risk in a future pregna..