Estabrooks L L, Rao K W, Korf B
Department of Pediatrics, Curriculum in Genetics, University of North Carolina, Chapel Hill.
Am J Med Genet. 1993 Jan 1;45(1):97-100. doi: 10.1002/ajmg.1320450123.
We report on a patient with a de novo interstitial deletion of chromosome 4p; 46,XY,del(4) (p15.31p16.3). The cytogenetic diagnosis would predict a patient with the Wolf-Hirschhorn syndrome (WHS) since deletions of 4p16 are associated with WHS [Wilson et al., 1981]. This patient lacks the facial characteristics of WHS, but has some anomalies of WHS that are also commonly seen in other syndromes, i.e., severe growth retardation, developmental delay, and hypospadias. His molecular distal breakpoint occurs in 4p16.3 as defined by fluorescence in situ hybridization and Southern blot analysis, and his deletion does not overlap with the currently proposed WHS critical region. This case gives further support to the distal position of the WHS critical region and demonstrates some of the WHS associated phenotypes that can be attributed to a deletion of the proximal third of 4p16.3.
我们报告了一名患有4号染色体短臂新发间质性缺失的患者；核型为46,XY,del(4)(p15.31p16.3)。由于4p16缺失与Wolf-Hirschhorn综合征（WHS）相关，细胞遗传学诊断提示该患者患有WHS[Wilson等人，1981年]。该患者缺乏WHS的面部特征，但具有一些WHS的异常表现，这些异常在其他综合征中也较为常见，即严重生长发育迟缓、发育延迟和尿道下裂。通过荧光原位杂交和Southern印迹分析确定，其分子远端断点位于4p16.3，且其缺失与目前提出的WHS关键区域不重叠。该病例进一步支持了WHS关键区域的远端位置，并证明了一些与WHS相关的表型可归因于4p16.3近端三分之一的缺失。
