GLI3 and Pallister-Hall syndrome: Genotype-phenotype correlation studies have indicated that mutations in the N-terminal and C-terminal thirds of the gene lead to GCS whereas mutations in the middle section lead to PHS.19 A later study confirmed this correlation and suggested the coordinates of the central PHS specific region to be between nucleotides 1998 and 3481.20 Both inversions reported here for Families 1 and 2 had breakpoints in intron four and so disrupt GLI3 after cDNA position 474 and therefore these results are largely consistent with the previously reported genotype-phenotype correlation for GCS.