14号染色体长臂远端片段重复
Duplication of the distal segment of 14q.
作者信息
Atkin J F, Patil S
出版信息
Am J Med Genet. 1983 Nov;16(3):357-66. doi: 10.1002/ajmg.1320160307.
PMID:6196971
Abstract
We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum alpha-1 antitrypsin levels and PI typing did not help to localize the alpha-1 antitrypsin gene locus.
摘要
我们描述了一名患有14q远端节段重复的儿童。她的父亲携带14号和15号染色体之间的平衡易位。一个详细的表格将她的临床发现与之前发表的7例病例以及另外3例新病例的发现进行了比较，以努力确定一种可识别的综合征。血清α-1抗胰蛋白酶水平和PI分型对定位α-1抗胰蛋白酶基因位点没有帮助。
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