Cohen O, Simonet M, Cans C, Mermet M A, Demongeot J, Amblard F, Jalbert P
Genetics Laboratory, Medical School, Joseph Fourier University of Grenoble, La Tronche, France.
Ann Genet. 1992;35(4):193-201.
A new computer system for genetic counseling in reciprocal translocations is described. This system, namely RCPc (RCP counseling) is a knowledge base extracted from a data base called SCD (Structural Chromosome Data) which contains 1376 families carrying reciprocal translocations. RCPc gives key information for each translocation which allows an evaluation of the risk of unbalance at birth and a prediction of the characteristics of potential unbalances. This information could provide a useful basis for deciding whether a prenatal diagnosis is required and if so, the preferred sampling method i.e. amniocentesis or chorionic villus sampling (CVS).
本文描述了一种用于相互易位遗传咨询的新型计算机系统。该系统，即RCPc（相互易位咨询）是从一个名为SCD（结构染色体数据）的数据库中提取的知识库，该数据库包含1376个携带相互易位的家庭。RCPc为每个易位提供关键信息，从而可以评估出生时染色体不平衡的风险，并预测潜在不平衡的特征。这些信息可为决定是否需要进行产前诊断以及（若需要）选择羊膜穿刺术或绒毛取样（CVS）等首选取样方法提供有用的依据。
