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

Abstract

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.

A Case With Multiple Congenital Anomaly: Partial Trisomy 14 and Partial Trisomy 22

“…Trizomi 14 ise, yukarda bahsedilenin aksine hayatla bağdaşmamakla birlikte, ebeveynlerinde dengeli bir translokasyon bulunan olgularda kısmi trizomi 14 görülebilmektedir (7). Oldukça nadir görülen 14. kromozomun uzun kolunun kısmi trizomisinde ise kardiyak defektler, göz anomalileri, dismorfik yüz görünümü, epilepsi ve zihinsel yetersizlik görülebilir (8). Hafiften şiddetli malformasyonlara kadar değişen fenotipik özellikler gösterebilir.…”