However, in this database are reported two de novo constitutive heterozygous deletions; the first, which spans 6.9 Mb and involves FBXW7 and 59 other genes, was found in a 27 years old 46,XX patient showing macrocephaly as the only clinical sign shared with our patient; the second spans 3.7 Mb including 32 genes, and was detected in a 46,XX patient for whom clinical phenotype was not recorded. Here, FBXW7 is linked to Macrocephaly.