Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

被引：12

作者：

Cavicchioni, O

Gomes, DM

Leroy, B

Vialard, F

Hillion, Y

Selva, J

Ville, Y ^{[1
]}

机构：

[1] Paris Ouest Univ, Dept Obstet & Gynecol, Paris, France

[2] Paris Ouest Univ, Med Genet Serv, Poissy, France

[3] CHI, Anat Pathol Serv, Fetal Pathol Unit, Poissy, France

来源：

PRENATAL DIAGNOSIS | 2005年 / 25卷 / 10期

关键词：

de novo (7; 19) translocation; corpus callosum; prenatal diagnosis; Wilms tumor;

D O I：

10.1002/pd.1129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal. Copyright (c) 2005 John Wiley & Sons, Ltd.

引用

页码：876 / 878

页数：3

共 23 条

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BALKAN JOURNAL OF MEDICAL GENETICS, 2018, 21 (02) : 69 - 72
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HUMAN GENETICS, 2006, 119 (1-2) : 162 - 168
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Mahmoud Reza Mansouri
Birgit Carlsson
Edward Davey
Agneta Nordenskjöld
Tomas Wester
Göran Annerén
Göran Läckgren
Niklas Dahl
Human Genetics, 2006, 119 : 162 - 168

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