Microdeletions/duplications involving <i><scp>TBX1</scp></i> gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence <i>in‐situ</i> hybridization

Abstract

Our findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects. Array CGH apparently has diagnostic sensitivity superior to that of FISH in fetuses with CTD associated with del22q11.2 (and dup22q11.2) syndrome.