额外小染色体来源的分子细胞遗传学研究

Molecular cytogenetic study of an extra small chromosome

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。

With he use of chromosome microdissection and PCR, we prepare a whole chromosome and the special probe pool of its subdivide band from a con genital retarded child of 47, XX, +mar. His mid phase chromosome then is conducted in situ hy bridization by means of the probe marked with the bio-nuclein. It is demonstrated that the mar origi nate with del (13 ) (pter→q12: ). Finally, we conducted that the techniques of microdissection and PCR, combining the chromosome in situ by bridization, is the effective approach to distinguish the origin of extra small chromosome.