Centerwall W R, Miller K S, Reeves L M
J Med Genet. 1976 Feb;13(1):57-61. doi: 10.1136/jmg.13.1.57.
Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid slant, dysplasia and hypolasis of the nails, clindactyly of the 5th fingers, and abnormal dermatoglyphs. It appears that the 'trisomy 9p syndrome' in its variant forms, including trisomies for more or less than just the short (p) arm, is one of the most common clinical autosome anomalies in humans, exceeded only by trisomy 21 (Down's syndrome) and possibly trisomies of chromosomes 13 and 18.
本文展示了一个三代家系中的6例9号染色体短臂远端三体易位病例以及4例无症状平衡易位携带者。其临床特征与最近发现并越来越多地报道的全短臂（9p）三体极为相似，应被视为同一综合征的一种变异形式。除了非特异性智力发育迟缓及身材矮小外，共同特征还包括具有特征性的面容，如下垂的嘴角、稍呈球根状的鼻子、中等大小的耳朵、有反蒙古样倾斜的间距较宽的眼睛、指甲发育不良及变薄、第5指短指畸形以及异常皮纹。看来，“9p三体综合征”的变异形式，包括不仅仅是短（p）臂的或多或少的三体，是人类最常见的临床常染色体异常之一，仅次于21三体（唐氏综合征），可能还有13号和18号染色体三体。
