原发性闭经伴新的46,XXqi/47,XXqi Xp-嵌合体。关于X等臂染色体形成和X染色体失活的思考。
Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi Xp-. Consideration on the X isochromosome formation and X chromosome inactivation.
作者信息
Halbrecht I, Shabtai F, Kuperstain C
出版信息
Acta Genet Med Gemellol (Roma). 1977;26(1):63-9. doi: 10.1017/s0001566000010205.
PMID:71839
Abstract
A case of Turner's syndrome was found to be 46,XXqi/47XX,qi Xp-, a new mosaic. The origin of such a mosaic, the formation of the Xq isochromosome using the C-banding technique, and the X chromosome inactivation are discussed. The Xq isochromosome was apparently monocentric, but probably with two strictly close centromeres. The inactivated X seemed to be the Xqi or the normal X alternatively.
摘要
发现一例特纳综合征患者为46,XXqi/47XX,qi Xp-，这是一种新的嵌合体。本文讨论了这种嵌合体的起源、利用C带技术形成Xq等臂染色体以及X染色体失活的情况。Xq等臂染色体显然是单中心的，但可能有两个紧密相邻的着丝粒。失活的X染色体似乎交替为Xqi或正常的X染色体。
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