Dean J C, Couzin D A, Gray E S, Lloyd D J, Stephen G S
Department of Molecular and Cell Biology, Medical School, University of Aberdeen, Scotland.
Clin Genet. 1991 Nov;40(5):349-52. doi: 10.1111/j.1399-0004.1991.tb03108.x.
A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
本文描述了一名早产男婴，其面部粗糙、患有膈疝、生殖器异常以及Dandy-Walker畸形，提示诊断为弗林斯综合征。淋巴细胞核型显示22号染色体部分三体，其母亲携带一条明显平衡的11/22易位染色体。最近已有三名具有弗林斯综合征特征和各种非整倍体的婴儿被报道。有人提出，中线发育区域放大的发育不稳定性可能是这些病例之间某些表型相似的原因。
