一种新生的3号染色体短臂；8号染色体短臂不平衡易位，导致3号染色体短臂部分重复和8号染色体短臂部分缺失。
A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p).
作者信息
Scarbrough P R, Carroll A J, Finley W H, Bridges D R
出版信息
J Med Genet. 1987 Mar;24(3):174-7. doi: 10.1136/jmg.24.3.174.
Abstract
We present the first case of a de novo translocation resulting in dup(3p). Giemsa banding studies tentatively identified the source of the extra genetic material as 3p. Clinical findings were compatible with those previously reported in dup(3p) patients, further defining this cytogenetic anomaly as a distinct, clinically identifiable syndrome.
摘要
我们报告首例因新生易位导致3p重复的病例。吉姆萨染色研究初步确定额外遗传物质的来源为3p。临床发现与先前报道的3p重复患者的发现相符，进一步将这种细胞遗传学异常定义为一种独特的、临床上可识别的综合征。
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