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通过反复流产确定的家族性双着丝粒易位t(13;18)(p13;p11.2)

Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages.

作者信息

Daniel A, Perel I D, Clarke A J, Saville T

出版信息

J Med Genet. 1979 Feb;16(1):73-5. doi: 10.1136/jmg.16.1.73.

Abstract

A dicentric translocation is described involving chromosomes 13 and 18 in which the centromere of chromosome 13 was suppressed. The translocation was ascertained by repeated miscarriages and was found in three generations of phenotypically normal carriers.

摘要

描述了一种涉及13号和18号染色体的双着丝粒易位,其中13号染色体的着丝粒受到抑制。该易位通过反复流产得以确定,并在三代表型正常的携带者中被发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b75b/1012786/bcebce306b48/jmedgene00290-0076-a.jpg

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