- 期刊
Mosaic Turner Syndrome and Turner Syndrome with Marker Chromosome in Mosaic Pattern: Report of Four Cases
並列摘要
Four cases of atypical Turner syndrome are presented: one of true mosaic (45,X/46,XX), two cases of Turner syndrome with marker chromosome in mosaic pat-tern(45,X/46,X,+mar), and one case of Turner syndrome with a ring chromosome in mosaic pattern {45,X/46,X, r (X) (p22; q26)}. The case of mosaic Turner syndrome had secondary amenorrhea, elevated serum levels of follicle-stimulating hormone (FSH), and minor degree of Turner stigmata. The two cases with mosaic marker chromosome and the one case with mosaic ring chromosome had primary amenorrhea and classical Turner stigmata. The presence of marker chromosome or ring chromosome in mosaic pattern did not seem to have the effect on the phenotype of Turner syndrome.