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Henry Ford Hospital Medical Journal

Abstract

Few examples of intrachromosomal insertions have been described. These usually result from deletion of a segment of chromosome material, with insertion of the deleted material elsewhere on the same chromosome. Previous insertional translocations have been identified through a proband who has either a deletion or a duplication of the inserted segment. We describe a family which has two probands, one with a duplication and one with a deletion of the inserted segment. The unbalanced chromosomes probably resulted from an uneven number of crossovers between the breakpoints in the chromosome 11 of the father, who carries a balanced intrachromosomal insertion of the segment 11q23 .3-1 1q24.2 into the short arm of chromosome 11: 46,XY, ins(11)(p14.2q23.3q24.2).

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