论文部分内容阅读
目的 通过对 1例 13号环状染色体综合征患者的染色体分析、表型定位研究和相关文献复习比较 ,探索染色体区带与表型的关系。方法 应用染色体G带、C带、N带、高分辨显带技术、表型定位和文献复习比较分析方法 ,对 1例 13号环状染色体综合征患者进行了研究。结果 患儿双亲核型正常 ,患儿核型为 45 ,XX ,-13 /4 6,XX ,r( 13 ) /4 6,XX ,r( 13 ;13 ) /4 7,XX ,2r( 13 ) ( p13q3 2 .3 ) ;典型的 13号环状染色体综合征与 13q3 4的缺失相关 ;13号环状染色体综合征患者的手足、肾脏、骨骼、外生殖器异常及心脏杂音与 13 q3 2 q3 2 .2片段的缺失有关 ,缩颌与 13q3 2 .3 q3 3片段的缺失相关 ,肛门闭锁与 13 q2 2 q3 2的缺失相关 ,无脑畸形与 13 q13 q2 2片段的缺失相关。 结论 新的环状染色体断裂重接点在 13 p13和 13q3 2 .3 ;13号环状染色体综合征患者临床特征的差异与染色体区带缺失部位的不同密切相关。
Objective To investigate the relationship between chromosome banding and phenotype by analyzing chromosome analysis, phenotypic localization and related literatures in a case of 13th ring chromosome syndrome. Methods A case of Cytosensis No. 13 was studied using G - banding, C - banding, N - banding, high - resolution banding, phenotypic localization and literature review and comparative analysis. Results The karyotypes were normal in children with karyotype of 45, XX, -13 / 46, XX, r (13) / 46, XX, r ) (p13q3 2 .3); typical 13-ring syndrome was associated with a loss of 13q3 4; abnormalities of hand, foot, kidney, bone, external genitalia, and cardiac murmurs in 13th ring chromosome syndrome were associated with 13 q3 2 q3 2 .2 fragments, and the occlusion was related to the loss of 13q3 2 .3 q3 3 fragments. Anal atresia was associated with a loss of 13 q2 2 q3 2, and anencephaly was associated with a loss of 13 q13 q2 2 fragments. Conclusions The differences in the clinical features of the new circular chromosome rupture junction between the 13 p13 and 13q3 2 .3; 13 ring chromosome syndromes are closely related to the differences in chromosomal region deletion.