Genes mapping in the digeorge and velocardiofacial syndrome minimal critical region

摘要

Transcription units encoded in the minimal DGS/VCFS critical region, primer pairs effective for amplifying said transcripts in a genomic DNA sample for the preparation of probes for detecting genetic deletions/mutations in the minimal DGS/VCFS critical region, and kits containing the probes are disclosed. One or more of said transcription units is implicated for the abnormalities associated with DGS/VCFS.