额外小染色体与原发闭经(附4例报告)

Four cases with extra chromosomes and Primary amenorrhea.

我们发现4例原发闭经伴额外小染色体病例,其核型分别为;46,XX/47,XX+mar;46,X,del(X)/47,X,del(X)+mar;47,XX,+mar;45,X/46,X,+mar/46,X+r.作者讨论了mar的发生率、起源、诊断、临床表现及产前诊断等问题.

Four Patients with primary amenorrhea were detected with extra chromosomes, whose karoytip-ies were 46, XX/47,XX, + mar; 46,X, del(X)/ 47,(X), del(X),+mar;47,XX,+mar;45,X/46, X ,+mar/46,X,+r respectively. In addition, we discuse the incidence, origin, diagnosis, clinical charateristics and prenatal diagnosis of the extra Chromosomes.