新发串联重复17p11导致向中心方向发展。
De novo tandem duplication 17p11 leads to cen.
作者信息
Docherty Z, Hultén M A, Honeyman M M
出版信息
J Med Genet. 1983 Apr;20(2):138-42. doi: 10.1136/jmg.20.2.138.
Abstract
A dicentric chromosome 17 is described in a 5-year-old girl with minor malformations and severe mental retardation. The anomaly is interpreted as a de novo duplication of band 17p11 and centromere 17.
摘要
一名患有轻度畸形和严重智力迟钝的5岁女孩被发现有一条双着丝粒17号染色体。该异常被解释为17p11带和17号着丝粒的新发重复。
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