Stoll C, Bolender C, Geraudel A, Finck S, Alembik Y, Dott B
Institut de Puériculture, CHU Hôpital Civil, Strasbourg, France.
Genet Couns. 1991;2(4):211-5.
A boy with MCA/MR and a fragile site (FS) at 8q22 opens the discussion of a possible association between a rare autosomal FS and an abnormal phenotype. The child was born after prenatal diagnosis of ureterohydronephrosis. He had facial dysmorphia and mental retardation (IQ = 40). The karyotype showed 8q22 FS in 12% of the cells obtained after addition of FUdR to the culture medium. No other etiologic factor was shown to be responsible for the MCA/MR syndrome. Several authors have reported a variety of neurodevelopmental abnormalities and mental retardation in individuals with rare FS expressed on chromosomes 2, 9, 10, 16 and 19. If rare FS predispose to phenotypic abnormalities what are the mechanisms?
一名患有中脑导水管狭窄/智力障碍且在8q22存在脆性位点（FS）的男孩引发了关于罕见常染色体脆性位点与异常表型之间可能关联的讨论。该患儿在产前诊断为输尿管肾盂积水后出生。他有面部畸形和智力障碍（智商 = 40）。核型显示在向培养基中添加氟尿苷后获得的细胞中有12%存在8q22脆性位点。未发现其他病因可导致中脑导水管狭窄/智力障碍综合征。几位作者报告了在染色体2、9、10、16和19上表达的罕见脆性位点个体中存在多种神经发育异常和智力障碍。如果罕见脆性位点易导致表型异常，其机制是什么？
