Duplication 11p11.3 → 14.1 to meiotic crossing‐over

Abstract
An infant with macular dysfunction, cleft lip and palate, and developmental delay was shown to have an inverted duplication of 11p11.3→p14.1 on the basis of meiotic recombination subsequent to an intrachromosomal “shift” in his mother. A half‐sister had previously been shown [3] to have the reciprocal recombinant with resultant deletion of 11p11.3→11p14.1.