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一条不寻常的9号变异染色体,其短臂上有一个额外的C阴性、G深色节段。

An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short arm.

作者信息

Spedicato F S, Di Comite A, Tohidast-Akrad M

出版信息

Clin Genet. 1985 Aug;28(2):162-5. doi: 10.1111/j.1399-0004.1985.tb00377.x.

Abstract

An unusual variant chromosome 9 is described in a mother and a daughter: an extra G-dark, C-negative and G-11 negative chromosomal segment is present in the short arm in the absence of apparent phenotypic effects. This extra material is also Ag-As negative and exhibits a fluorescence similar in intensity to that of band 9q21 when stained by QFQ and DAPI/AMD, and to that of band 9p13 in RBA-banded preparations; it is slightly less fluorescent when R-banded by chromomycin A3. The possibility of an association with an increased risk of spontaneous abortion is presented.

摘要

在一位母亲和她女儿身上发现了一条异常的9号变体染色体:在短臂上存在一个额外的G暗带、C阴性和G-11阴性染色体片段,且无明显的表型效应。这个额外的物质也是Ag-As阴性,用QFQ和DAPI/AMD染色时,其荧光强度与9q21带相似,用RBA显带制片时,其荧光强度与9p13带相似;用放线菌素A3进行R显带时,其荧光稍弱。本文还探讨了其与自然流产风险增加相关的可能性。

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