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[Four new cases of X-autosome translocation in man (author's transl)].

作者信息

Laurent C, Biemont M C, Dutrillaux B

出版信息

Humangenetik. 1975;26(1):35-46. doi: 10.1007/BF00280283.

Abstract

Four new cases of translocations involving the X chromosome are reported. The first is a balanced t(1;X) observed in an abnormal girl. In most of the cells, the normal X is inactivated. The second case is a woman with oligomenorrhea, who has had two spontaneous abortions. She carries an umbalanced t(X-autosome). In all cells, the abnormal X, including the autosomal segment, is inactivated. The third and fourth cases are a mother, and her son. The mother has oligomenorrhea, carries a t(X,X), and has a karyotype of 46,X,+der t(X;X) and that of her son is 47,XY,+der t(X;X) and shows behavioral abnormalities. The abnormal X chromosome is inactivated in all the cells analyzed.

摘要

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