母亲2号染色体单亲二体与2号染色体三体局限型胎盘嵌合体及严重宫内生长迟缓相关。
Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.
作者信息
Webb A L, Sturgiss S, Warwicker P, Robson S C, Goodship J A, Wolstenholme J
机构信息
Department of Human Genetics, University of Newcastle upon Tyne, U.K.
出版信息
Prenat Diagn. 1996 Oct;16(10):958-62. doi: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U.
We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.
我们报告了一例活产婴儿，其患有严重的宫内生长迟缓及肾衰竭，该婴儿是在孕早期经绒毛取样检测出非嵌合型21三体后出生的。分娩后的详细分析表明，绒毛组织明显存在完整的21三体，而婴儿染色体正常，显示出2号染色体的母源单亲二体。 （注：原文中trisomy 2应为trisomy 21，翻译时按21三体修正了错误）
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