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产前诊断发现遗传性易位t(4;5)。

Inherited translocation t(4;5) discovered on prenatal diagnosis.

作者信息

Sun N H, Wang F Y, Li J X, Zhou X T, Tang H S

出版信息

Am J Med Genet. 1981;8(3):299-303. doi: 10.1002/ajmg.1320080307.

Abstract

We report an apparently balanced reciprocal t(4q;5q) translocation ascertained coincidentally on amniocentesis in a phenotypically normal male fetus and found to be inherited in his mother and maternal grandmother. No banding study was available at the time of the amniocentesis, and the chromosomal status of his parents was unknown. Because of the possibility that this finding might be a de novo, unbalanced translocation, the pregnancy was terminated. Subsequently, the translocation was found to be apparently balanced, but so unequal that both unbalanced translocation products are presumed to be lethal. Thus, it is predicted that only carriers and normal individuals will be conceived and viable in this family. We are unaware of previously observations on a similar (4q;5a) translocation.

摘要

我们报告了一例在表型正常的男性胎儿羊膜穿刺术中偶然确定的明显平衡的相互易位t(4q;5q),发现其由母亲和外祖母遗传而来。羊膜穿刺术时无法进行染色体显带研究,其父母的染色体状况未知。由于这一发现可能是新发的不平衡易位,因此终止了妊娠。随后发现该易位明显平衡,但非常不均等,推测两种不平衡的易位产物均具有致死性。因此,预计这个家族中只会孕育出携带者和正常个体且能存活。我们未发现之前有关于类似的(4q;5q)易位的观察报道。

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