Furthermore, one patient with a heterozygous duplication of the MYH11 gene and a heterozygous variant in the NOTCH1 gene showed the microduplication syndrome (16p13.11); a patient with the heterozygous variant of the NOTCH3 gene showed CADASIL syndrome; a non-syndromic craniosynostosis was documented in a patient with the heterozygous variant of the NOTCH1 gene; and a patient with karyotype 45 X0 suffered from Turner syndrome. The gene discussed is NOTCH1; the disease is Turner syndrome.