Davidenkova E F, Verlinskaja D K, Mashkova M V
Hum Genet. 1978 Apr 24;41(3):269-79. doi: 10.1007/BF00284761.
Among 209 patients with Shereshevsky-Turner syndrome, 69 women with structural aberrations of X chromosome were detected: 46,X,i(Xq) - 11; 45,X/46,X,i(Xq) - 24; 45,X/46,X,r(X) - 14; 45,X/46,X,f(X or Y) - 10; 45,X/46,X,del(Xq) - 4; 45,X/46,X,del(Xp) - 2; 45,X/46,X,idic(X) - 2; 46,X,idic(X) - 1; and 46,X,t(X,2) - 1. All the patients with structural abnormalities of X chromosome were short in stature, but in no group was it as low on the average as in 45,X cases. Somatic signs were noticed in all structural changes of X, but they were less frequent and less pronounced. In some patients with r(X) and i(Xq), spontaneous menstrual bleeding and breast development was found. The structurally abnormal X chromosome appears to be functionally inactive, the phenotype of patients with structural rearrangements being close to the phenotype of patients with X monosomy. At the same time, the abnormal X might have certain effects in early embryogenesis which mitigated the further development of the Shereshevsky-Turner syndrome.
在209例舍雷舍夫斯基-特纳综合征患者中，检测到69例X染色体结构异常的女性：46,X,i(Xq) - 11例；45,X/46,X,i(Xq) - 24例；45,X/46,X,r(X) - 14例；45,X/46,X,f(X or Y) - 10例；45,X/46,X,del(Xq) - 4例；45,X/46,X,del(Xp) - 2例；45,X/46,X,idic(X) - 2例；46,X,idic(X) - 1例；以及46,X,t(X,2) - 1例。所有X染色体结构异常的患者身材矮小，但平均身高均不像45,X病例那样低。在X的所有结构变化中均发现了躯体体征，但出现频率较低且不太明显。在一些r(X)和i(Xq)患者中，发现了自发性月经出血和乳房发育。结构异常的X染色体似乎在功能上无活性，结构重排患者的表型与X单体患者的表型相近。同时，异常的X可能在早期胚胎发生中有一定作用，减轻了舍雷舍夫斯基-特纳综合征的进一步发展。
