通过DNA原位杂交确认10号染色体长臂重复。
Duplication 10q confirmed by DNA in situ hybridization.
作者信息
Johnson V P, Sutliff W C
机构信息
Department of Obstetrics and Gynecology, University of South Dakota School of Medicine, Vermillion.
出版信息
Am J Med Genet. 1994 Aug 15;52(2):184-7. doi: 10.1002/ajmg.1320520212.
Partial duplication of 10q is a recognizable clinical entity. In most of the reported cases, the trisomic segment is identified by a balanced translocation state in a parent. Verification remains a problem in de novo cases. However, the recent availability of whole chromosome probes allows for confirmatory diagnosis of suspected cases. We describe a case of de novo duplication (10q) with verification using DNA in situ hybridization.
10号染色体长臂部分重复是一种可识别的临床病症。在大多数已报道的病例中，三体片段是通过父母一方的平衡易位状态确定的。在新发（从头发生）病例中，确诊仍然是个问题。然而，全染色体探针的出现使得疑似病例的确诊成为可能。我们描述了一例通过DNA原位杂交进行确诊的新发（10q）重复病例。
Zotero 插件