Teyssier M, Charrin C
Laboratoire d'Histologie-Embryologie-Biologie de la Reproduction, Faculté de Médecine Lyon-Nord.
J Gynecol Obstet Biol Reprod (Paris). 1992;21(4):413-7.
X deletions result generally in one or many features characteristic of Turner syndrome but each feature cannot be attribute to a well defined deletion. We present 3 cases of Xq partial deletion: 2 in girls with primary amenorrhea and normal stature, 1 in a patient with secondary amenorrhea and short stature. X inactivation is a complex phenomenon, the mechanism is not yet clear. Inactivation center(s) and active genes on inactive chromosome could explain the manifestation or the absence of clinical symptoms in X deletions.
X染色体缺失通常会导致一种或多种特纳综合征的特征,但每种特征不能归因于明确的缺失。我们报告3例Xq部分缺失病例:2例为原发性闭经且身材正常的女孩,1例为继发性闭经且身材矮小的患者。X染色体失活是一种复杂的现象,其机制尚不清楚。失活染色体上的失活中心和活性基因可以解释X染色体缺失时临床症状的表现或缺失。