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[相互染色体易位携带者的生殖障碍风险及易位携带者的检测方法]

[Risk of reproduction disorders in carriers of mutual chromosomal translocations, and methods for detection of translocation carriers].

作者信息

Midro A T, Wiśniewski L, Krajewska-Walasek M, Szymańska J

出版信息

Ginekol Pol. 1989 Jul-Sep;60(7-9):380-6.

PMID:2702197
Abstract

It is believed that the method of detection of chromosomal translocation carrier state may be a prognostic factor for the risk of giving birth to an ill child with unbalanced karyotype. For verification of this view 30 families were studied which had balanced mutual translocations identified by means of GTG banding technique in the Genetics Laboratory of the Child's Health Centre. In each family the risk was estimated of the development of an undifferentiated karyotype in live born offspring and fetuses in the 2nd trimester of pregnancy using a method evolved by Stengel--Rutkowski et al. (1988). In the group of families identified by examination of a child with abnormalities the individual risk of development of an undifferentiated karyotype in a newborn was from 0.45% to 19.78% and in a fetus it was 4.5% to 46%. In the group of families identified by spontaneous abortion the risk in the newborns was from 0 to 7% and in the fetuses in 2nd trimester it was 0 to 35%, while in the families undergoing cytogenetic examinations for indications other than reproduction disturbances the risk of an unbalanced karyotype in the newborns was from 0 to 23%, and in the fetuses from 0 to 34%. Since in each group of families high-risk translocations were found, the used methods of preliminary estimation of the risk based on the used ways of family identification are open to reservations.

摘要

据信,染色体易位携带者状态的检测方法可能是生出核型不平衡病儿风险的一个预后因素。为验证这一观点,对30个家庭进行了研究,这些家庭在儿童健康中心遗传实验室通过GTG显带技术鉴定出存在平衡相互易位。在每个家庭中,使用Stengel - Rutkowski等人(1988年)改进的方法,估计活产后代和妊娠中期胎儿出现未分化核型的风险。在通过检查有异常的儿童而确定的家庭组中,新生儿出现未分化核型的个体风险为0.45%至19.78%,胎儿为4.5%至46%。在通过自然流产确定的家庭组中,新生儿的风险为0至7%,妊娠中期胎儿为0至35%,而在因非生殖障碍指征接受细胞遗传学检查的家庭中,新生儿核型不平衡的风险为0至23%,胎儿为0至34%。由于在每组家庭中都发现了高风险易位,基于所用家庭识别方式的风险初步估计方法存在问题。

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