Kabuki make-up and Turner syndromes in the same patient.
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.
Wellesley
D G
DG
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Slaney
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*