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我们于1985～1987年,在遗传咨询和细胞遗传学研究中,先后发现三种染色体核型,即46,XY,t(4;12)(P12;q12)、48,XY,t(7;13)(P15;q12)、46,xx,t(6,7)(P21;q22),属世界首次发现。本文针对其核型对后代可能造成的影响及机理进行了讨论,并对染色体平衡易位与表型之间的关系进行了分析。
In 1985-1987, we found three karyotypes in genetic counseling and cytogenetics: 46, XY, t (4; 12) (P12; q12), 48, XY, t 13) (P15; q12), 46, xx, t (6,7) (P21; q22), is the first discovery in the world. In this paper, the possible impact and mechanism of karyotype on offspring are discussed, and the relationship between chromosomal equilibrium translocation and phenotype is analyzed.