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[相互染色体易位携带者无子女家庭的系谱分析]

[Pedigree analysis of childless families of reciprocal chromosome translocation carriers].

作者信息

Stasiewicz-Jarocka B, Panasiuk B, Sawicka A, Leśniewicz R, Midro A T

机构信息

Zakładu Genetyki Klinicznej Instytutu Połoznictwa i Chorób Kobiecych Akademii Medycznej w Białymstoku.

出版信息

Ginekol Pol. 1998 Dec;69(12):1183-90.

Abstract

OBJECTIVES

Pedigree analysis of childless families of unique reciprocal chromosome translocation (RCT) carriers may be useful for clinical prognosis and genetic counselling.

MATERIAL AND METHODS

The group 13 childless families of RCT carriers were detected. Cytogenetic analysis of RCT was performed on blood samples using GTG and RBG banding technique.

RESULTS

Thirteen pedigrees were constructed on basis of 64 cytogenetic results and anamnestic data of 62 spontaneous abortions and 7 stillbirths. Familial RCT were found in ten families. In addition fourteen relatives of the RCT carriers have had healthy children. Further observations showed other three healthy children among progeny of eight families. Low risk for unbalanced progeny at birth were estimate in most families.

CONCLUSION

Childless families of RCT carriers have possibility to have healthy offsprings. Spontaneous abortions are result of RCT carrierstrip.

摘要

目的

对独特相互易位染色体(RCT)携带者的无子女家庭进行系谱分析可能有助于临床预后和遗传咨询。

材料与方法

检测了13组RCT携带者的无子女家庭。采用GTG和RBG显带技术对血液样本进行RCT的细胞遗传学分析。

结果

根据64例细胞遗传学结果以及62例自然流产和7例死产的既往史数据构建了13个系谱。在10个家庭中发现了家族性RCT。此外,RCT携带者的14名亲属育有健康子女。进一步观察发现,8个家庭的后代中有另外3名健康儿童。大多数家庭估计出生时不平衡后代的风险较低。

结论

RCT携带者的无子女家庭有可能生育健康后代。自然流产是RCT携带者的结果。

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