胎儿存在涉及2号和11号染色体的不平衡易位。
Fetus with unbalanced translocation involving chromosomes 2 and 11.
作者信息
Norman A M, Read A P, Clark A, Haslam J, Donnai D
机构信息
Regional Genetic Service, Manchester, UK.
出版信息
Clin Dysmorphol. 1992 Jan;1(1):53-6.
PMID:1342860
Abstract
We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene is discussed.
摘要
我们报告了一例胎儿，其2号和11号染色体之间存在不平衡易位，这是父源性平衡相互易位的产物，胎儿核型为46, XX, -11, +der(11)t(2;11)(q35;q24.1)pat。该胎儿具有异常的面部特征。本文讨论了该病例与I型瓦登伯格综合征基因定位的相关性。
Zotero 插件