摘要
为检出易于被忽略的染色体末端微小结构异常 ,为生育提供指导 ,选取特异性 7号全染色体探针、X染色体长臂探针和 7q亚端粒 (7q36→qter)探针 ,用荧光原位杂交 (fluorescenceinsituhybridization ,FISH)结合G显带技术分析 2个病例 ,其中病例 1有不良妊娠史并疑有末端微小易位 ,病例 2在G显带水平已发现为X和 7号染色体易位的卵巢早衰患者。结果表明 ,FISH确诊病例 1为染色体末端的隐匿易位 ,病例 2的易位断点得到精确定位 ,它不在 7q36而在 7q末端。应用特异性染色体探针及亚端粒探针 ,通过FISH技术可以确诊染色体末端区域的微小结构异常 ,在临床遗传学中有广泛的应用 。
In order to identify those easily overlooked minute chromosomal structural abnormality on the chromosomal regions, and to provide a valuable guidance for pregnancy, fluorescence in situ hybridization (FISH) technique by whole chromosome 7 painting probe, Xq probe and subterminal probe of 7q36→qter was performed to analyze two cases. Case 1 had a history of recurrence spontaneous abortion and with an uncertain minute translocation on the chromosomal terminal regions. Case 2 was a premature ovarian failure patient with a balanced translocation between chromosome X and chromosome 7 by G banding. The results showed that case 1 was a cryptic minute translocation on the chromosomal terminal regions, and the breakpoint of case 2 was accurately determined, that is, the breakpoint was not on 7q36 but on 7qter. Therefore FISH technique with whole chromosome painting probe and subterminal probe could be used to diagnose the minute chromosomal structural abnormality on the chromosomal regions. It could be used widely in the clinical genetics and was an effective tool for genetic counseling and reproductive guidance.
