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[Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)].

作者信息

Gilgenkrantz S, Mauuary G, Dutrillaux B, Masocco G

出版信息

Humangenetik. 1975;26(1):24-34.

PMID:50264
Abstract

A patient with ovarian failure was found to have a segment of the long arm of an X chromosome translocated to the distal end of the short arm of a 2nd chromosome: 46,Xt(X;2) (q21;p25). The Barr bodies were of normal size. Autoradiographic and B.U.D.R. studies showed that the normal X was the late-replicating X. The translocated segment was late replicating in 5% without spreading effect. It is suggested that preferential inactivation of the normal X chromosome is observed when a segment of X chromosome is translocated onto an autosome. When a segment of autosome is translocated onto an X chromosome the abnormal X chromosome is consistently late-replicating. These findings may be available for other mammalian species in the balanced translocations.

摘要

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