反复流产中的复杂平衡染色体重排。
A complex balanced chromosomal rearrangement in repeated abortions.
作者信息
Barros A, Tavares M C, Castedo S, Pereira M S, Tavares M P, Almeida e Costa M
出版信息
Hum Genet. 1987 Apr;75(4):388-90. doi: 10.1007/BF00284115.
A double balanced reciprocal translocation involving four chromosomes, t(1;19;6;14) (1p11; 19p11; 6q25; 14q21), was found in the phenotypically normal husband in a couple referred because of repeated abortions. Reciprocal translocations, t(6;14), had been transmitted by his mother, his father being apparently homozygous for a translocation comprising pairs 1 and 19--t(1;19)(1;19). The genetic consequences of this complex chromosomal rearrangement are analyzed.
在一对因反复流产前来咨询的夫妇中，发现表型正常的丈夫存在涉及四条染色体的双平衡相互易位，即t(1;19;6;14) (1p11; 19p11; 6q25; 14q21)。他的母亲曾传递过相互易位t(6;14)，而他的父亲显然是涉及1号和19号染色体对的易位——t(1;19)(1;19)的纯合子。对这种复杂染色体重排的遗传后果进行了分析。
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