Y染色体长臂与近端着丝粒染色体易位的遗传学分析

Cytogenetic analysis of the translocation between the heterochromatic region of the long arm of the Y chromosome and the short arm of an acrocentric chromosome.

目的应用荧光原位杂交技术对4例染色体核型为15p+的患者进行分析。方法经细胞遗传学(G显带和C显带)发现染色体核型为15p+的患者选用Yq12为探针进行荧光原位杂交。结果15号染色体短臂的额外物质为Y染色体长臂末端的结构异染色质。结论FISH方法可帮助确定一些来源不明的额外染色体物质。

Objective： This article is to analyze the chromosomal karyotypes of 4 patients with 15p ＋. Methods： Chromosomal analysis were performed in 4 patients by GTG/CBG - banding and Fluorescent in situ hybridization （FISH）. Results： The positive DA - DAPI staining of 15p confirmed that the extra material came from Yqh at the pseudoautosomal region of Yq. Conclusions： These cases demonstrates the usefulness of molecular techniques in the investigation of rare chromosomal rearrangements.