Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

Özet

We report the clinical and genetic characterization of 2 cousins sharing the samechromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplicationdue to an unusual familial reciprocal non robertsonian translocation between2 acrocentric chromosomes t(14;22)(q13;q11.2), the mother of patient 1 wasthe first cousin of the father of patient 2. Fluorescent in situ hybridizationconfirmed the cytogenetic results. The patients showed dysmorphic featuresand developmental delay with evident intrafamilial phenotypic variability.Reciprocal non robertsonian translocation is a rare event, and has not beenreported in patients with 22q11.2 deletions. The mechanism responsible forthis rare type of translocation is discussed herein.