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[易位(13;18)(q22;p11)与产前诊断(作者译)]

[Translocation (13; 18) (q22; p 11) and prenatal diagnosis (author's transl)].

作者信息

Wagenbichler P, Golob E, Schnedl W

出版信息

Wien Klin Wochenschr. 1976 Oct 15;88(19):646-8.

PMID:983074
Abstract

A balanced translocation (13; 18) (q 22; p 11) was diagnosed in two generations. Out of 10 pregnancies in these two translocation carriers, mother and daughter, only two phenotypically normal childern were born. One of these, namely the daughter, showed balanced translocation, whilst a normal karyotype was diagnosed prenatally in the second case. The other eight pregnancies ended either in spontaneous abortions, in intrauterine death or in lethal malformations. In the present translocation the formation of unbalanced gametes seems to be enhanced.

摘要

两代人中均诊断出平衡易位(13;18)(q22;p11)。在这两名易位携带者(母亲和女儿)的10次妊娠中,仅出生了两名表型正常的孩子。其中之一,即女儿,表现出平衡易位,而另一例在产前诊断为正常核型。其他8次妊娠结局为自然流产、宫内死亡或致死性畸形。在本次易位中,不平衡配子的形成似乎有所增加。

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