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Turner综合征的典型临床表现有原发闭经、身材矮小、条索状性腺、性幼稚、蹼颈、肘外翻、特殊面容祀其他身体异常。染色体核型多数为X单体(45,XO)或嵌合体(XO/XX),部分为X染色体结构畸变。XO/XY嵌合体者在Turner综合征中并不多见。本文报道此型两例并讨论Turner综合征的主要临床表现,X染色体在性分化中的作用,X单体的发病原理,表现型与基因型的关系,X单体和XO/XO嵌合体的细胞学来源以及对病人的处理等问题。
Typical clinical manifestations of Turner syndrome are primary amenorrhea, short stature, cord-like gonads, sexual naive, webbed neck, elbow valgus, special face other body abnormalities. The majority of chromosome karyotype X monomer (45, XO) or chimera (XO / XX), part of the X chromosome structural aberrations. XO / XY chimeras are rare in Turner’s syndrome. This article reports two cases of this type and discusses the main clinical manifestations of Turner syndrome, X chromosome in the role of sexual differentiation, the pathogenesis of X monomer, the relationship between phenotype and genotype, X monomer and XO / XO chimera Cytological sources and the handling of patients and other issues.