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本文对1例47．XX，＋mar的先天智低患儿．应用显微切割、PCR方法，制备整条染色体及区带专特性探针池，用生物素标记探针．对患者的中期染色体进行荧光原位杂交．证实了mar来源于del（13）（Pter→q12：）．结果表明显微切割、PCR技术与染色体荧光原位杂交结合是鉴别额外小染色体来源的有效手段。
This article on a 47 cases. XX, + mar innate intellectual Chi children. The microdissection and PCR method were used to prepare the whole chromosome and the zone-specific probe pool, labeled with biotin. Metaphase chromosomes of patients were subjected to fluorescence in situ hybridization. It is confirmed that mar is from del (13) (Pter → q12 :). The results showed that the combination of microdissection, PCR and chromosomal fluorescence in situ hybridization was an effective method to identify the source of additional small chromosomes.