关于X染色体臂间倒位重排病例迄今为止已报道了8例。8例的情况是:X染色体臂间倒位重复有短臂重复也有长臂重复;不平衡程度大的倒位断片占了X染色体长度的1/3;女性病人一般临床症状都较轻,甚至比Turner综合征病人的还轻。而临床异常目前基本上还只限于身材矮小。身材矮小起因于片段Xpter→Pl1.2单体性,这已基本得到肯 Eight cases have been reported so far on the cases of X chromosome rearrangement. 8 cases of the situation is: X-chromosome arm repeat inversion has a short arm repeat also has long arm repeat; unbalanced degree of large fragments of the length of the X chromosome accounted for 1/3; female patients generally have less clinical symptoms, or even It is lighter than Turner’s syndrome. The clinical abnormalities are basically still limited to short stature. Short stature due to fragment Xpter → Pl1.2 monomer, which has basically been Ken