Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene

摘要: Purpose: Terminal deletions of chromosome 4q are commonly associated with cardiovascular malformations (CVMs). The dHAND gene (HAND2, heart and neural crest derivative express 2), a basic helix-loop-helix transcription factor expressed in the developing heart, maps to 4q33. A targeted deletion mouse shows that plays an important role development, suggesting haploinsufficiency patients may be causal for CVMs. purpose this study is examine possible association between CVMs occur terminal deletions. Methods: Fluorescence situ hybridization (FISH) was performed human genomic probe on five at 4q33 or 4q34. Results: Of three locus, two had CVM (both valvar pulmonic stenosis). without gene, one small atrial septal defect noted autopsy. In breakpoint 4 assigned 4q34.2 by GTG-banding, FISH revealed gene. Conclusion: results suggest cardiac phenotypes very variable not necessarily correct cytogenetic interpretation might augmented FISH.