Altherr M R, Gusella J F, Wasmuth J J, Kummer M A, McKercher S W, Johnson V P
Department of Biological Chemistry, College of Medicine, University of California, Irvine.
Am J Med Genet. 1992 Nov 1;44(4):449-54. doi: 10.1002/ajmg.1320440413.
Wolf-Hirschhorn syndrome (WHS) results from a deletion of part of chromosome 4p. The region of 4p consistently deleted in WHS is near the tip of 4p. Two loci in this region D4S95 and D4S125 are associated with highly informative VNTR polymorphisms and were recently converted to allow PCR-based screening. PCR analysis was used successfully to identify a small de novo deletion of 4p in a patient suspected of having WHS. This procedure allows a rapid and accurate confirmation of 4p deletions in cases where cytogenetics alone cannot provide a clear answer.
沃尔夫-赫希霍恩综合征（WHS）是由4号染色体短臂部分缺失所致。WHS中持续缺失的4p区域靠近4p末端。该区域的两个位点D4S95和D4S125与信息丰富的VNTR多态性相关，最近已转化为可进行基于PCR的筛查。PCR分析已成功用于鉴定一名疑似患有WHS患者的4p小的新生缺失。在仅靠细胞遗传学无法提供明确答案的情况下，该方法可快速准确地确认4p缺失。
