产前诊断中意外的染色体结构重排
Unexpected structural chromosome rearrangements in prenatal diagnosis.
作者信息
Boué J, Girard S, Thépot F, Choiset A, Boué A
出版信息
Prenat Diagn. 1982 Jul;2(3):163-8. doi: 10.1002/pd.1970020304.
PMID:7145845
Abstract
Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.
摘要
在因各种指征（孕妇年龄、神经管缺陷、代谢疾病、X连锁疾病、病理妊娠）进行的5315例产前诊断中，在胎儿细胞中发现了29例意外的结构染色体重排。其中14例为新发染色体重排，6例为不平衡重排，8例为平衡重排。15例为遗传性平衡重排。文中讨论了这种高频率的结构异常情况。
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