分子细胞遗传学技术在确诊9p三体综合征中的应用

Determination of trisomy 9p by molecular cytogenetic technology

目的 用分子细胞遗传学技术鉴别常规细胞遗传学难以确定的染色体异常。方法 用染色体涂染、比较基因组杂交(com parative genom ic hybridization,CGH)和多色显带分析技术(colorbandingchrom osom e analysis,RxFISH),对一例G 显带提示为9 号染色体结构异常的病例进行研究。结果 患儿核型为46,XX,9p+ ,染色体涂染显示两条9 号染色体(包括短臂额外片段)被均匀涂染,CGH 和RxFISH证实为9 号短臂完全重复,核型准确描述为46,XX,dup 9p(p11→p24∷p24→qter)。结论 这些技术手段可以鉴别常规细胞遗传学难以进行诊断的、复杂的染色体结构异常,在基础及临床医学研究领域中。

Objective To use molecular cytogenetic techniques for the determination of complex chromosomal aberrations that could not be distinguished by conventional cytogenetic method.Methods Chromosome painting,comparative genomic hybridization(CGH) and color banding chromosome analysis(RxFISH) were used to identify a case with chromosome 9 aberration by G banding.Results The patient has a karyotype of 46,XX,9p+ by G banding.Both chromosomes 9 were uniformly painted,including the extra segment on one of the 9p alleles.CGH revealed a duplication of the entire 9p short arm.After analysis with RxFISH the patient's karyotype could be accurately described as 46,XX,dup9p(p11→p24∷p24→qter).Conclusion The present report shows that some late technological developments in the field of cytogenetics can facilitate the study of the diseases linked to complex chromosomal aberrations and may find significant application in basic and clinical medical studies.