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复杂染色体重排:1例新病例报告及文献复习

Complex chromosome rearrangements. Report of a new case and literature review.

作者信息

Pai G S, Thomas G H, Mahoney W, Migeon B R

出版信息

Clin Genet. 1980 Dec;18(6):436-44. doi: 10.1111/j.1399-0004.1980.tb01790.x.

Abstract

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.

摘要

本文描述了一名表型异常儿童中涉及三条常染色体和一条X染色体的复杂且独特、看似平衡的易位。利用葡萄糖6磷酸脱氢酶作为标记进行的家系研究提供了该Xq位点非随机表达的生化证据,并表明先证者的这种新发异常可能源于父方——这是首次记录到的此类病例。

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