Brook C G, Mürset G, Zachmann M, Prader A
Arch Dis Child. 1974 Oct;49(10):789-95. doi: 10.1136/adc.49.10.789.
The growth records of 64 patients with 45,XO chromosome constitution have been analysed. The extremely short stature of adults with this condition (142·5 cm) appears to be due to intrauterine growth failure, to a gradual decline in height velocity in childhood, and to the absence of a pubertal growth spurt. Pubic hair appeared in 68% of patients but was delayed both in relation to chronological age and to bone age. The growth failure is presumably the result of a genetic abnormality in the bones of these patients. Treatment with oestrogens caused development of secondary sex characteristics but did not appear to affect final stature. The age of the patient when treatment was administered was not of significance in affecting the final height of the patients. Despite the reduction in adult height, the correlation between the height of the patients with Turner's syndrome and their parents was maintained, a roughly constant amount of height being lost through the chromosomal abnormality. This suggests that the genes whose action underlies the variation in adult height among the normal population must be located for the most part on the autosomes.
对64例染色体组成为45,XO的患者的生长记录进行了分析。患有这种疾病的成年人身材极矮(142.5厘米),这似乎是由于宫内生长发育迟缓、儿童期身高增长速度逐渐下降以及青春期生长突增缺失所致。68%的患者出现了阴毛,但相对于实际年龄和骨龄均出现延迟。生长发育迟缓可能是这些患者骨骼遗传异常的结果。雌激素治疗导致了第二性征的发育,但似乎并未影响最终身高。开始治疗时患者的年龄对患者的最终身高没有显著影响。尽管成年身高有所降低,但特纳综合征患者的身高与其父母之间的相关性仍然存在,因染色体异常导致身高大致减少了固定的量。这表明,在正常人群中,决定成年身高差异的基因大部分一定位于常染色体上。