CAJ | 학술논문

目的：探讨5p部分三体遗传物质增加与临床表现的关系。方法对患儿及其父母进行G显带分析，同时对已报道的5p部分三体进行临床表现总结。结果患儿核型46，XX ，der（6）t（5；6）（p13；q25） mat ，部分三体5p13→pter来自于平衡异位的母亲。结论5p部分三体的症状与特定染色体区域的基因表达有关。
목적：탐토5p부분삼체유전물질증가여림상표현적관계。방법대환인급기부모진행G현대분석，동시대이보도적5p부분삼체진행림상표현총결。결과환인핵형46，XX ，der（6）t（5；6）（p13；q25） mat ，부분삼체5p13→pter래자우평형이위적모친。결론5p부분삼체적증상여특정염색체구역적기인표체유관。
Objective To further explore the relationship between increasing genetic material and clinical manifestation of partial trisomy 5p .Methods G‐banding karyotypes of peripheral blood lymphocytes in the patient and his parents ,and at the same time to summary the partial trisomy 5p clinical performance .Results patient ,46 ,XX ,der(6)t(5 ;6)(p13;q25) mat ;partial trisomy for 5p13→pter resulting from the balanced translocation of the mother .Mother:46 ,XX ,t(5;6)(p13 ;q25);carrier of a balanced 5/6 translocation .Father :46 ,XY .Conclusion The phenotype of trisomy 5p may be associated with express and function of gene at spe‐cial chromosome region .