由一条标记染色体导致的近端5号染色体短臂三体综合征提示5号染色体短臂三体综合征中5p13带的存在。
Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
作者信息
Avansino J R, Dennis T R, Spallone P, Stock A D, Levin M L
机构信息
University of Nevada School of Medicine, Reno, Nevada.
出版信息
Am J Med Genet. 1999 Nov 5;87(1):6-11.
PMID:10528239
Abstract
We describe an infant with trisomy of (5)(p10p13.1) resulting from a de novo marker chromosome. The marker's origin was identified by chromosome microdissection and reverse in situ hybridization. The clinical findings are compared to those of other partial and complete 5p duplications. This case further defines the critical region of 5p trisomy syndrome to proximal 5p.
摘要
我们描述了一名因新发标记染色体导致5号染色体（5）（p10p13.1）三体的婴儿。通过染色体显微切割和反向原位杂交确定了该标记染色体的起源。将临床发现与其他部分和完全5p重复的病例进行了比较。该病例进一步将5p三体综合征的关键区域确定为5p近端。
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