At three years old, informed consent was obtained for a single-nucleotide polymorphism array analysis, which revealed a PTEN gene mutation [46, XY, der(10)del(10)(q23.2q23.31)t(1;10)(p36.2;q23.31),t(2;7)(p13;p13)], and a definitive diagnosis of PHTS was confirmed. The gene discussed is PTEN; the disease is PTEN hamartoma tumor syndrome.