Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

摘要

Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46, XY, ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart. (C) 2015 S. Karger AG, Basel