嵌合型45，X/47，XY，+18
Mosaic 45,x/47,xy,+18.
作者信息
Serville F, Fontan D, Laurent C, Cazauran J M, Verger P
出版信息
Hum Genet. 1977 May 10;36(3):351-3. doi: 10.1007/BF00446288.
PMID:852877
Abstract
A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.
摘要
本文描述了一名患有先天性青光眼、特纳综合征表型及智力发育迟缓的发育不良女婴。血培养显示45,X/47,XY,+18染色体嵌合体；成纤维细胞培养仅显示45,X细胞。该婴儿在11个月时死亡。尸检显示卵巢发育不全及钙化性主动脉狭窄。
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