Of 79 genes defined by Barlow et al. [29] as forming a critical region on chromosome 21 for congenital heart disease, seven had increased expression in our study (SH3BGR, CSTB, PFKL, PDXK, TMEM1, C21orf33, WRB) (Tables 1 and 9). This evidence concerns the gene PFKL and congenital heart disease.