Kaluzewski B, Jokinen A, Hortling H, de la Chapelle A
Ann Genet. 1978 Mar;21(1):5-11.
Three patients with male habitus, short stature and testicular differentiation are described. All had mos 45,X/46,XY, the ratio of the two stemlines varying between the patients and between different tissues. The Y chromosome was abnormal, lacking the brilliant QFQ fluorescence and dark CGB staining characteristic of the distal part of the normal Y. Detailed banding studies suggested that the short arm and proximal part of the long arm were normal, while the distal part of the long arm was molecularly or otherwise altered, resulting in abnormal staining properties. Two of the patients were tested for H-Y antigen and found to be positive. These data and those collected from the literature are compatible with a model in which the primary lesion in X/XY mosaicism is a molecular alteration in the reiterated Y-specific DNA sequences (and possibly neighbouring sequences) of a 46,XY zygote resulting in the frequent mitotic loss of the Y and the emergence of a 45,X line. Provided the testis-determining gene(s) near the centromere are normal, testes are formed and the patient is H-Y antigen-positive. The extent of male or female differentiation depends in part on the prevalence, time of occurence, and distribution of the 45,X line and possibly in part on the alteration of other genes involved in sex differentiation and located on Yq further from the centromere.
本文描述了3例具有男性体型、身材矮小且有睾丸分化的患者。所有患者均为45,X/46,XY嵌合体，两种细胞系的比例在患者之间以及不同组织之间有所不同。Y染色体异常，缺乏正常Y染色体远端部分特有的明亮QFQ荧光和深色CGB染色特征。详细的染色体带型研究表明，短臂和长臂近端部分正常，而长臂远端部分在分子水平或其他方面发生改变，导致染色特性异常。对其中2例患者进行了H-Y抗原检测，结果呈阳性。这些数据以及从文献中收集的数据与一种模型相符，即在X/XY嵌合体中，原发性病变是46,XY受精卵中重复的Y特异性DNA序列（可能还有相邻序列）发生分子改变，导致Y染色体在有丝分裂过程中频繁丢失，从而出现45,X细胞系。如果着丝粒附近的睾丸决定基因正常，则会形成睾丸，患者H-Y抗原呈阳性。男性或女性分化的程度部分取决于45,X细胞系的发生率、出现时间和分布情况，也可能部分取决于参与性别分化且位于Yq上远离着丝粒的其他基因的改变。
