本文报道了三个近亲婴儿和一个20周的胎儿共四例。这四例均有严重的先天性发育异常,并且他们都具有相同的1号染色体的部分三体(1q42→ter)。根据家系调查和细胞遗传学研究发现,四例是在一个大的家系中由于平衡易位染色体发生分离而产生的。作者认为他们的发现使人们描述一种新的综合征(1q42→ter综合征)的轮廓成为可能。这种新的综合征的典型表现如下:子宫内发育时期以及产后时期都有严重的发育迟缓, This article reports a total of four cases of three relatives and one 20-week fetus. All four had severe congenital dysplasia, and they all had the same partial trisomy on chromosome 1 (1q42 → ter). According to pedigree surveys and cytogenetic studies, four cases were found in a large pedigree due to the separation of equilibrium translocations. The authors believe their findings make it possible to describe the profile of a new syndrome (1q42 → ter syndrome). The typical manifestations of this new syndrome are as follows: intrauterine development and postpartum period have serious stunting,