White D M, Pillers D A, Reiss J A, Brown M G, Magenis R E
Department of Pediatrics, Doernbecher Children's Hospital, Portland 97201-3042, USA.
Am J Med Genet. 1995 Jul 17;57(4):588-97. doi: 10.1002/ajmg.1320570415.
Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14-16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome.
4号染色体的间质性缺失鲜有报道，且表现各异。我们描述了7例有多种共同轻微异常并伴有智力障碍的患者，其4号染色体p14 - 16区域间质性缺失相关的表型特征。本文还对已发表的4号染色体短臂间质性缺失病例进行了综述。这些缺失呈现出一种与Wolf-Hirschhorn综合征不同的独特表型。
