PTCH1 and holoprosencephaly: This gain did not include the PTCH1 gene (located at chr9: 98,205,265–98,279,247) and, thus the phenotype was different from the previously reported familial cases with 9q22.3 microduplication spanning PTCH1 [17], and without microcephaly or holoprosencephaly that were often seen in patients with gain of PTCH1 [18].