等臂双着丝粒X染色体与嵌合体：两例45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq)病例报告及文献复习
Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature.
作者信息
Melaragno M I, Fakih L M, Cernach M C, Maccagnan P
机构信息
Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
出版信息
Am J Med Genet. 1993 Sep 1;47(3):357-9. doi: 10.1002/ajmg.1320470312.
PMID:8135281
Abstract
We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. The mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event.
摘要
我们报告了2例具有45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq)嵌合体和带有2个C带的X等臂染色体的乌尔里希-特纳综合征病例。具有3种细胞系的嵌合体表明合子中存在等臂双着丝粒染色体以及随后的不分离事件。
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