45,X/47,XY,+13 mosaicism and Crohn's disease.
作者信息
Knudtzon J, Ledaal P, Middelthon-Moe M, Aarskog D
机构信息
Departments of Paediatrics, University of Bergen, Norway.
出版信息
Acta Paediatr Scand. 1988 Nov;77(6):922-4. doi: 10.1111/j.1651-2227.1988.tb10784.x.
Abstract
The unusual karyotype 45,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with the Turner syndrome. To our knowledge this is the first reported case of Crohn's disease in a patient with 45,X and Y chromosome mosaicism.
摘要
Zotero 插件