Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome).
A I-year-old girl with severe Christmas disease and a factor IX content less than I% of normal is described. The family history was negative and coagulation studies on her relatives were normal. Genetic investigation showed an XXp-karyotype with deletion of the short arm of one X-chromosome, a cytogenetic variant of Turner syndrome. The transmission pathway of the haemophilia gene is discussed.
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D002836:Hemophilia B / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*