一名患有不对称性腺发育不全胎儿的45,X/46,XY嵌合体的产前诊断。
Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis.
作者信息
Kirkilionis A J, Rodney P, Sergovich F R, Armstrong R
机构信息
Department of Anatomy, University of Western Ontario, London, Canada.
出版信息
Prenat Diagn. 1987 Sep;7(7):521-4. doi: 10.1002/pd.1970070708.
PMID:3671336
Abstract
An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.
摘要
一名18周的流产胎儿经产前诊断为45,X/46,XY嵌合体。该胎儿为表型男性，患有腺体型尿道下裂、马蹄肾和不对称性腺发育不全。此病例代表了产前诊断的具有异常表型的45,X/46,XY嵌合体的罕见实例。
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引用本文的文献
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The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.45,X/46,XY嵌合体的表型：对92例产前诊断病例的分析
Am J Hum Genet. 1990 Jan;46(1):156-67.
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