Temtamy S A, Ghali I, Salam M A, Hussein F H, Ezz E H, Salah N
Department of Human Genetics, National Research Center, Cairo, Egypt.
Clin Genet. 1992 Mar;41(3):147-51. doi: 10.1111/j.1399-0004.1992.tb03652.x.
We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45,X (n = 22): 46,XX (n = 11); 45,X/46,XX (n = 10); 46,XX/46,Xi(Xq) (n = 4); 46,XX/46,XXq- (n = 3); 46,XX/46,XXp- (n = 2); 46,Xi(Xq) (n = 2); 45,X/46,Xi(Xq) (n = 2); 46,XXp- (n = 1); 46,XX/47,XXX (n = 1); 46,XXq- (n = 1); 45,X/46,X(ry) (n = 1). Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes. The highest somatic scores and the most severe clinical manifestations were noted in cases of pure 45,X Turner and the mildest in 46,XX/46,XX(str) mosaics or pure 46,XX, including hypergonadotrophic hypogonadism. Our findings revealed a dosage effect of the X chromosome on phenotype, thus confirming that partial X chromosome inactivation modifies somatic and pubertal development. Our results also support both the additive and interactive hypotheses of karyotype/phenotype correlation.
我们研究了60名身材矮小的女性。主要目的是确定核型变异对表型的影响。根据已知在特纳综合征中出现的17种临床躯体变化的存在情况，为每个病例计算了一个躯体特征评分。核型研究显示以下结果：45,X（n = 22）；46,XX（n = 11）；45,X/46,XX（n = 10）；46,XX/46,Xi(Xq)（n = 4）；46,XX/46,XXq-（n = 3）；46,XX/46,XXp-（n = 2）；46,Xi(Xq)（n = 2）；45,X/46,Xi(Xq)（n = 2）；46,XXp-（n = 1）；46,XX/47,XXX（n = 1）；46,XXq-（n = 1）；45,X/46,X(ry)（n = 1）。核型/表型相关性显示临床表型严重程度的分级与X染色体数量有关。在纯45,X特纳综合征病例中观察到最高的躯体评分和最严重的临床表现，而在46,XX/46,XX(str)嵌合体或纯46,XX病例中最轻微，包括高促性腺激素性性腺功能减退。我们的研究结果揭示了X染色体对表型的剂量效应，从而证实部分X染色体失活会改变躯体和青春期发育。我们的结果也支持核型/表型相关性的加性和交互性假设。
