一名携带两个明显不相关的相互易位的女性：胎儿核型正常的产前诊断。
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
作者信息
Simoni G, Montali E, Rossella F, Dalprà L, Lo Curto F
出版信息
Hum Genet. 1979 Jan 25;46(2):159-62. doi: 10.1007/BF00291917.
PMID:422200
Abstract
Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.
摘要
在一名妇女的核型中发现了涉及2号、9号、12号和18号染色体的两个相互平衡易位，该妇女的一名孩子出生时表现出几种先天性畸形。在第二次怀孕时进行的产前细胞遗传学诊断显示，胎儿的染色体构成正常。
Zotero 插件