13q部分三体的分子细胞检测及其与斜颈体征的可能关系

目的 探讨斜颈与13号染色体部分三体的可能关系。方法 应用染色体显带技术结合荧光原位杂交确诊两个具有13q部份三体典型临床症状病例的核型，并比较他们的临床表型与已报道病例的异同。结果 两例患者均为13q14→qter的部分三体，尽管另一条衍生染色体不同，但他们都有斜颈临床体征。结论 13q14→qter可能与斜颈相关，结合以前报道过的一篇文献，该基因更精确的定位可能为13q32→qter。

Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis

OBJECTIVE: To search for the possible relation between tortilcollis and partial chromosome 13q trisomy. METHODS: Fluorescence in situ hybridization (FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously. RESULTS: The two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis. CONCLUSION: It is suggested that a potential site for tortilcollis may locate on the long arm of chromosome 13. With reference to a report previously published, the more precise candidate related region may be 13q32--> qter.