Allogeneic stem cell transplantation from donors with mosaic Turner syndrome.

摘要

Turner syndrome (TS) is a genetic disorder affecting 1/2500-3000 live-born females. It is characterized by the complete or partial absence of one of the X-chromosomes, and is frequently accompanied by mosaicism (45,X/46,XX). Its most consistent clinical features are short stature and ovarian failure. Loss of specific genes located on the X-chromosome are thought to be responsible for a range of disorders, including osteoporosis, hypothyroidism, diabetes mellitus (DM), cardiovascular and gastrointestinal diseases, ophthalmic disorders, as well as various immuno-logical defects.1-2 We report two cases of allogeneic stem cell transplantation (SCT) in which 45,X/46,XX stem cells derived from donors with mosaic TS were used.