We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric chromosomes t(14;22)(q13;q11.2), the mother of patient 1 was the first cousin of the father of patient 2. Fluorescent in situ hybridization confirmed the cytogenetic results. The patients showed dysmorphic features and developmental delay with evident intrafamilial phenotypic variability. Reciprocal non robertsonian translocation is a rare event, and has not been reported in patients with 22q11.2 deletions. The mechanism responsible for this rare type of translocation is discussed herein.

Keywords: 14pter-q13 duplication, 22q11.2 deletion, familial reciprocal non robertsonian translocation, fluorescent in situ hybridization