Fennell S J, Benson J W, Kindley A D, Schwarz M J, Czepulkowski B
Department of Cytogenetics, Royal Manchester Children's Hospital, Pendlebury, Manchester.
J Med Genet. 1989 Mar;26(3):167-71. doi: 10.1136/jmg.26.3.167.
We report two de novo cases of del(8)(pter----q24.1:) with breakpoints involving the distal part of band 8q24.1. The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three other cases reported with a deletion of chromosome 8 at approximately the same breakpoint, one without LGS and some similarities to our cases, the other two with LGS. Our findings would support the observation that the critical segment for the assignment of LGS is proximal to or involves the proximal part of 8q24.1, but a review of published reports suggests that the aetiology of LGS may be a more complex issue.
我们报告了两例新发的8号染色体长臂缺失（del(8)(pter----q24.1:))病例，其断点涉及8q24.1带的远端部分。临床特征相似，且无明显的朗格-吉迪恩综合征（LGS）体征。另外还有三例报道，其8号染色体在大致相同的断点处发生缺失，其中一例无LGS且与我们的病例有一些相似之处，另外两例有LGS。我们的研究结果支持这样的观点，即LGS相关的关键片段位于8q24.1近端或涉及8q24.1近端部分，但对已发表报告的回顾表明，LGS的病因可能是一个更复杂的问题。
