Sánchez J M, Fijtman N, Migliorini A M
J Med Genet. 1982 Oct;19(5):384-7. doi: 10.1136/jmg.19.5.384.
A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micrognathia, and microsomy. Up to date, 11 liveborn infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype correlation. Minimal clinical diagnostic criteria are defined, on the basis of which the presence of this syndrome can be suspected.
本文报道了一名患有9号染色体三体嵌合体的新生女婴。临床检查发现主要畸形包括：双侧髋关节脱位、左膝关节脱位、严重小颌畸形和身材短小。截至目前，已有11例9号染色体三体活产婴儿的报道，这使我们能够进行核型/表型相关性分析。本文定义了最低临床诊断标准，据此可怀疑该综合征的存在。
