Kabuki makehyphen;up and Turner syndromes in the same patient

摘要

We describe a 2-year-old girl with clinical features of both Turner syndrome and Kabuki make-up syndrome. Cytogenetic analysis of 100 cells derived from skin and peripheral lymphocytes showed a 45,X karyotype. Phenotypically she has most of the features expected in a girl with 45,X, but in addition is microcephalic with the dysmorphic features of Kabuki make-up syndrome.