Smith A, Sullivan J, Evans W A
Oliver Latham Laboratory, Department of Health, N.S.W., Australia.
J Ment Defic Res. 1989 Feb;33 ( Pt 1):87-93. doi: 10.1111/j.1365-2788.1989.tb01454.x.
A severely mentally retarded girl who suffered from grand mal seizures, myoclonic jerking and ataxia died at 18 years of age. Chromosome studies, before and after death revealed a fragile site on chromosome 2q13, the expression of which was greater in peripheral blood than in fibroblasts on two occasions. Post mortem findings did not reveal any abnormality which could be attributed to this fragile site.
一名患有癫痫大发作、肌阵挛抽搐和共济失调的重度智力发育迟缓女孩，于18岁时死亡。生前和死后的染色体研究显示，2号染色体q13处存在一个脆性位点，该位点在两次检测中在外周血中的表达均高于成纤维细胞。尸检结果未发现可归因于该脆性位点的任何异常。
