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一名双侧肾缺如胎儿的11号染色体嵌合三体:巧合还是新的关联?

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

作者信息

Balasubramanian Meena, Peres Luiz Cesar, Pelly Dorothy

机构信息

Sheffield Clinical Genetics Service Department of Histopathology Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, South Yorkshire, UK.

出版信息

Clin Dysmorphol. 2011 Jan;20(1):47-49. doi: 10.1097/MCD.0b013e32833ff2e9.

Abstract

We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier reports of full trisomy 11, presumably because it is lethal and results in early spontaneous miscarriages. There is only one report published earlier in a fetus with mosaic trisomy 11. There have been a few case reports of trisomy 11 identified in pre-natal samples, where it was associated with normal outcome. Bilateral renal agenesis has not been reported earlier in association with mosaic nor non-mosaic trisomy 11. We describe this rare cytogenetic finding in a fetus with bilateral renal agenesis. We also discuss the issues around genetic counselling when this is encountered in clinical practice.

摘要

我们报告了一例患有11号染色体三体嵌合体且伴有双侧肾缺如的胎儿。我们描述了该胎儿的尸检结果及细胞遗传学分析。此前没有关于完整11号染色体三体的报道,推测是因为其具有致死性并导致早期自然流产。仅有一篇早期发表的关于患有11号染色体三体嵌合体胎儿的报道。有几例在产前样本中检测出11号染色体三体的病例报告,这些病例的结局正常。此前尚未有关于双侧肾缺如与11号染色体三体嵌合体或非嵌合体相关的报道。我们描述了这例伴有双侧肾缺如胎儿中这种罕见的细胞遗传学发现。我们还讨论了临床实践中遇到这种情况时围绕遗传咨询的问题。

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