medicalgenetics-pp2014研.ppt

* Leigh syndrome 多见于婴幼儿,因线粒体能量代谢障碍导致中枢神经系统进行性退行性损害,临床表现复杂,病理特征为脑基底节、脑干海绵样变性 喂养困难,营养不良,进行性运动倒退,肌张力低下,眼震. 死于呼吸衰竭。 脑MR I显示双侧基底节对称性损害,脑干、小脑萎缩 * ， X * * Short and broad hands, big toe widely spaced, palm crease * * 嘴大，唇厚，腭弓高 * 。 * 发 * The X Chromatin( the Barr body) 46,XX 46,XY 46,XXX The Lyon hypothesis In the somatic cells of female mammals, only one X chromosome is transcriptionally active. The second X is heterochromatic and inactive and appears in interphase cells as sex chromatin, the Barr body. Inactivation occurs early in embryonic life. In any one female som