Fraisse J, Laurent C, Collard N, Biemont M C, Dutrillaux B
Ann Genet. 1975 Dec;18(4):243-5.
A translocation which originated by telomeric "fusion" of X short arms, t(X;X), was found in a woman with primary amenorrhea and a phenotype corresponding partially to Turner's syndrome. Staining with acridine orange after BrdU incorporation showed the distal segments of both Xp's to be much more modified by the treatment than equivalent segments of normal late replicating X's. This could mean important inactivation of segments usually active even in late replicating X's. This functional monosomy for X would have a clinical effect similar to a true monosomy.
在一名原发性闭经且部分表型与特纳综合征相符的女性中,发现了一种由X短臂端粒“融合”产生的易位,即t(X;X)。在掺入溴脱氧尿苷(BrdU)后用吖啶橙染色显示,两条Xp的远端片段比正常晚期复制X染色体的等效片段受到该处理的修饰更多。这可能意味着通常即使在晚期复制的X染色体上也活跃的片段发生了重要的失活。这种X染色体的功能性单体性可能会产生与真正单体性相似的临床效应。