Dutrillaux B, Laurent C, Forabosco A, Noel B, Suerinc E, Biemont M C, Cotton J B
Ann Genet. 1975 Mar;18(1):21-7.
Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.
本文报告了三例4q部分三体的观察病例:第一例是由于家族性易位,第二例是由于新发易位,第三例是由于“镜像”重复。将这一非常典型的表型与文献中已报道的其他4例患者的表型进行了比较。最引人注意的症状包括:鼻梁缺失或显示不清;嘴唇撅起;人中短;对耳屏上持续存在一条褶皱,延续耳轮脚直至耳廓插入处。